ClinVar for MedGen (Select 355199) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 1 to 100 of 428

<< First< Prev

Page of 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3382085	NM_003995.4(NPR2):c.208G>A (p.Glu70Lys)	NPR2 (E70K)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 1, Maroteaux type	GUncertain significance
Select item 3375488	NM_003995.4(NPR2):c.1329G>T (p.Leu443Phe)	NPR2 (L443F)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 1, Maroteaux type	GUncertain significance
Select item 3367137	NM_003995.4(NPR2):c.934C>T (p.Arg312Cys)	NPR2 (R312C)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 1, Maroteaux type	GUncertain significance
Select item 2953918	NM_003995.4(NPR2):c.1888-3C>A	NPR2	Single nucleotide variant (intron variant)	Tall stature-scoliosis-macrodactyly of the great toes syndrome +1 more	GUncertain significance
Select item 2953849	NM_003995.4(NPR2):c.407A>T (p.Tyr136Phe)	NPR2 (Y136F)	Single nucleotide variant (missense variant)	Tall stature-scoliosis-macrodactyly of the great toes syndrome +2 more	GUncertain significance
Select item 2953166	NM_003995.4(NPR2):c.1954G>A (p.Val652Met)	NPR2 (V652M +1 more)	Single nucleotide variant (missense variant)	Tall stature-scoliosis-macrodactyly of the great toes syndrome +1 more	GUncertain significance
Select item 2953119	NM_003995.4(NPR2):c.2226T>A (p.Asn742Lys)	NPR2 (N745K +1 more)	Single nucleotide variant (missense variant)	Tall stature-scoliosis-macrodactyly of the great toes syndrome +1 more	GUncertain significance
Select item 2952946	NM_003995.4(NPR2):c.839G>A (p.Arg280Gln)	NPR2 (R280Q)	Single nucleotide variant (missense variant)	Tall stature-scoliosis-macrodactyly of the great toes syndrome +1 more	GUncertain significance
Select item 2952590	NM_003995.4(NPR2):c.1168A>C (p.Thr390Pro)	NPR2 (T390P)	Single nucleotide variant (missense variant)	Tall stature-scoliosis-macrodactyly of the great toes syndrome +1 more	GUncertain significance
Select item 2952583	NM_003995.4(NPR2):c.1124-11T>G	NPR2	Single nucleotide variant (intron variant)	Tall stature-scoliosis-macrodactyly of the great toes syndrome +1 more	GLikely benign
Select item 2952502	NM_003995.4(NPR2):c.607T>C (p.Tyr203His)	NPR2 (Y203H)	Single nucleotide variant (missense variant)	Tall stature-scoliosis-macrodactyly of the great toes syndrome +1 more	GUncertain significance
Select item 2951329	NM_003995.4(NPR2):c.2076C>T (p.Leu692=)	NPR2	Single nucleotide variant (synonymous variant)	Tall stature-scoliosis-macrodactyly of the great toes syndrome +1 more	GLikely benign
Select item 2950785	NM_003995.4(NPR2):c.1289G>A (p.Gly430Glu)	NPR2 (G430E)	Single nucleotide variant (missense variant)	Tall stature-scoliosis-macrodactyly of the great toes syndrome +1 more	GUncertain significance
Select item 2950564	NM_003995.4(NPR2):c.3118C>T (p.Arg1040Trp)	NPR2, SPAG8 (A453T +2 more)	Single nucleotide variant (missense variant +1 more)	Tall stature-scoliosis-macrodactyly of the great toes syndrome +1 more	GUncertain significance
Select item 2949720	NM_003995.4(NPR2):c.2931T>C (p.Tyr977=)	NPR2, SPAG8	Single nucleotide variant (synonymous variant +1 more)	Tall stature-scoliosis-macrodactyly of the great toes syndrome +1 more	GLikely benign
Select item 2949695	NM_003995.4(NPR2):c.385T>G (p.Phe129Val)	NPR2 (F129V)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GUncertain significance
Select item 2949431	NM_003995.4(NPR2):c.1093G>C (p.Val365Leu)	NPR2 (V365L)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GUncertain significance
Select item 2949359	NM_003995.4(NPR2):c.2376G>A (p.Glu792=)	NPR2	Single nucleotide variant (synonymous variant)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GUncertain significance
Select item 2949262	NM_003995.4(NPR2):c.1436+9T>G	NPR2	Single nucleotide variant (intron variant)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GLikely benign
Select item 2949138	NM_003995.4(NPR2):c.740A>G (p.Asn247Ser)	NPR2 (N247S)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 1, Maroteaux type +2 more	GUncertain significance
Select item 2948780	NM_003995.4(NPR2):c.171C>A (p.Gly57=)	NPR2	Single nucleotide variant (synonymous variant)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GLikely benign
Select item 2948035	NM_003995.4(NPR2):c.990G>A (p.Met330Ile)	NPR2 (M330I)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GUncertain significance
Select item 2947961	NM_003995.4(NPR2):c.826G>A (p.Asp276Asn)	NPR2 (D276N)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GUncertain significance
Select item 2947060	NM_003995.4(NPR2):c.477C>G (p.His159Gln)	NPR2 (H159Q)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GUncertain significance
Select item 2946395	NM_003995.4(NPR2):c.2912G>T (p.Gly971Val)	NPR2, SPAG8 (G971V +1 more)	Single nucleotide variant (missense variant +1 more)	Tall stature-scoliosis-macrodactyly of the great toes syndrome +1 more	GUncertain significance
Select item 2946004	NM_003995.4(NPR2):c.2751C>A (p.Gly917=)	NPR2, SPAG8	Single nucleotide variant (synonymous variant +1 more)	Tall stature-scoliosis-macrodactyly of the great toes syndrome +1 more	GLikely benign
Select item 2945558	NM_003995.4(NPR2):c.1951G>A (p.Val651Met)	NPR2 (V651M +1 more)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GUncertain significance
Select item 2945556	NM_003995.4(NPR2):c.2887+19C>T	NPR2, SPAG8	Single nucleotide variant (intron variant)	Tall stature-scoliosis-macrodactyly of the great toes syndrome +1 more	GLikely benign
Select item 2944545	NM_003995.4(NPR2):c.1190T>C (p.Met397Thr)	NPR2 (M397T)	Single nucleotide variant (missense variant)	Tall stature-scoliosis-macrodactyly of the great toes syndrome +1 more	GUncertain significance
Select item 2944318	NM_003995.4(NPR2):c.2738dup (p.Met913fs)	NPR2, SPAG8 (M913fs +1 more)	Duplication (frameshift variant +1 more)	Tall stature-scoliosis-macrodactyly of the great toes syndrome +1 more	GPathogenic
Select item 2944094	NM_003995.4(NPR2):c.2268A>G (p.Gln756=)	NPR2	Single nucleotide variant (synonymous variant)	Tall stature-scoliosis-macrodactyly of the great toes syndrome +1 more	GLikely benign
Select item 2944002	NM_003995.4(NPR2):c.331T>G (p.Phe111Val)	NPR2 (F111V)	Single nucleotide variant (missense variant)	Tall stature-scoliosis-macrodactyly of the great toes syndrome +1 more	GUncertain significance
Select item 2943874	NM_003995.4(NPR2):c.1219-5T>C	NPR2	Single nucleotide variant (intron variant)	Tall stature-scoliosis-macrodactyly of the great toes syndrome +1 more	GLikely benign
Select item 2942134	NM_003995.4(NPR2):c.1352-12T>A	NPR2	Single nucleotide variant (intron variant)	Tall stature-scoliosis-macrodactyly of the great toes syndrome +1 more	GUncertain significance
Select item 2941267	NM_003995.4(NPR2):c.1123+1G>C	NPR2	Single nucleotide variant (splice donor variant)	Tall stature-scoliosis-macrodactyly of the great toes syndrome +1 more	GLikely pathogenic
Select item 2940854	NM_003995.4(NPR2):c.803G>A (p.Arg268His)	NPR2 (R268H)	Single nucleotide variant (missense variant)	Tall stature-scoliosis-macrodactyly of the great toes syndrome +1 more	GUncertain significance
Select item 2940793	NM_003995.4(NPR2):c.2028C>A (p.Asp676Glu)	NPR2 (D679E +1 more)	Single nucleotide variant (missense variant)	Tall stature-scoliosis-macrodactyly of the great toes syndrome +1 more	GUncertain significance
Select item 2940145	NM_003995.4(NPR2):c.1557+17G>A	NPR2	Single nucleotide variant (intron variant)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GLikely benign
Select item 2939022	NM_003995.4(NPR2):c.2577T>C (p.Ser859=)	NPR2	Single nucleotide variant (synonymous variant)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GLikely benign
Select item 2938980	NM_003995.4(NPR2):c.361A>C (p.Thr121Pro)	NPR2 (T121P)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GUncertain significance
Select item 2938413	NM_003995.4(NPR2):c.2036C>T (p.Ala679Val)	NPR2 (A682V +1 more)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GUncertain significance
Select item 2938401	NM_003995.4(NPR2):c.1577C>T (p.Ser526Leu)	NPR2 (S526L +1 more)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GUncertain significance
Select item 2938354	NM_003995.4(NPR2):c.1633-13C>T	NPR2	Single nucleotide variant (intron variant)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GLikely benign
Select item 2938152	NM_003995.4(NPR2):c.1775T>C (p.Ile592Thr)	NPR2 (I595T +1 more)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GUncertain significance
Select item 2938031	NM_003995.4(NPR2):c.1380T>A (p.Ala460=)	NPR2	Single nucleotide variant (synonymous variant)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GLikely benign
Select item 2937613	NM_003995.4(NPR2):c.1103T>C (p.Met368Thr)	NPR2 (M368T)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GUncertain significance
Select item 2937487	NM_003995.4(NPR2):c.1191G>A (p.Met397Ile)	NPR2 (M397I)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GUncertain significance
Select item 2936916	NM_003995.4(NPR2):c.2985A>C (p.Gln995His)	NPR2, SPAG8 (Q995H +1 more)	Single nucleotide variant (missense variant +1 more)	Tall stature-scoliosis-macrodactyly of the great toes syndrome +1 more	GUncertain significance
Select item 2935812	NM_003995.4(NPR2):c.1614C>T (p.Ala538=)	NPR2	Single nucleotide variant (synonymous variant)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GLikely benign
Select item 2935098	NM_003995.4(NPR2):c.1632+10C>T	NPR2	Single nucleotide variant (intron variant)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GLikely benign
Select item 2933351	NM_003995.4(NPR2):c.949G>T (p.Ala317Ser)	NPR2 (A317S)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GUncertain significance
Select item 2933311	NM_003995.4(NPR2):c.1462G>A (p.Ala488Thr)	NPR2 (A488T +1 more)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GUncertain significance
Select item 2933181	NM_003995.4(NPR2):c.1741C>T (p.Arg581Cys)	NPR2 (R581C +1 more)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GUncertain significance
Select item 2932365	NM_003995.4(NPR2):c.1866A>T (p.Ser622=)	NPR2	Single nucleotide variant (synonymous variant)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GLikely benign
Select item 2931857	NM_003995.4(NPR2):c.2483G>A (p.Arg828His)	NPR2 (R828H +1 more)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GUncertain significance
Select item 2931737	NM_003995.4(NPR2):c.832C>T (p.Arg278Cys)	NPR2 (R278C)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GUncertain significance
Select item 2931329	NM_003995.4(NPR2):c.2858A>G (p.Gln953Arg)	NPR2, SPAG8 (Q956R +1 more)	Single nucleotide variant (missense variant +1 more)	Tall stature-scoliosis-macrodactyly of the great toes syndrome +1 more	GUncertain significance
Select item 2929702	NM_003995.4(NPR2):c.1367T>C (p.Leu456Pro)	NPR2 (L456P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2929502	NM_003995.4(NPR2):c.1301C>T (p.Ser434Leu)	NPR2 (S434L)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GUncertain significance
Select item 2928616	NM_003995.4(NPR2):c.63G>A (p.Gly21=)	NPR2	Single nucleotide variant (synonymous variant)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GLikely benign
Select item 2928380	NM_003995.4(NPR2):c.2414T>A (p.Met805Lys)	NPR2 (M808K +1 more)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GUncertain significance
Select item 2927421	NM_003995.4(NPR2):c.305T>C (p.Val102Ala)	NPR2 (V102A)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GUncertain significance
Select item 2927417	NM_003995.4(NPR2):c.1263G>A (p.Thr421=)	NPR2	Single nucleotide variant (synonymous variant)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GLikely benign
Select item 2927081	NM_003995.4(NPR2):c.873+10G>C	NPR2	Single nucleotide variant (intron variant)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GLikely benign
Select item 2927042	NM_003995.4(NPR2):c.896G>A (p.Arg299Gln)	NPR2 (R299Q)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GUncertain significance
Select item 2925776	NM_003995.4(NPR2):c.2159G>A (p.Arg720His)	NPR2 (R723H +1 more)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GUncertain significance
Select item 2925448	NM_003995.4(NPR2):c.1801C>A (p.Arg601Ser)	NPR2 (R601S +1 more)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GPathogenic
Select item 2925447	NM_003995.4(NPR2):c.890C>T (p.Thr297Met)	NPR2 (T297M)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GUncertain significance
Select item 2925446	NM_003995.4(NPR2):c.844C>T (p.Gln282Ter)	NPR2 (Q282*)	Single nucleotide variant (nonsense)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GPathogenic
Select item 2924859	NM_003995.4(NPR2):c.1956G>A (p.Val652=)	NPR2	Single nucleotide variant (synonymous variant)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GUncertain significance
Select item 2924854	NM_003995.4(NPR2):c.2901T>G (p.Ala967=)	NPR2, SPAG8	Single nucleotide variant (synonymous variant +1 more)	Tall stature-scoliosis-macrodactyly of the great toes syndrome +1 more	GBenign
Select item 2924695	NM_003995.4(NPR2):c.1251G>A (p.Gln417=)	NPR2	Single nucleotide variant (synonymous variant)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GLikely benign
Select item 2924554	NM_003995.4(NPR2):c.1123+18A>G	NPR2	Single nucleotide variant (intron variant)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GLikely benign
Select item 2924357	NM_003995.4(NPR2):c.1558-6C>G	NPR2	Single nucleotide variant (intron variant)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GLikely benign
Select item 2924076	NM_003995.4(NPR2):c.1294C>T (p.Pro432Ser)	NPR2 (P432S)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GUncertain significance
Select item 2923764	NM_003995.4(NPR2):c.2155C>G (p.Leu719Val)	NPR2 (L722V +1 more)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GUncertain significance
Select item 2923368	NM_003995.4(NPR2):c.2712+9T>G	NPR2	Single nucleotide variant (intron variant)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GLikely benign
Select item 2922852	NM_003995.4(NPR2):c.826G>C (p.Asp276His)	NPR2 (D276H)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GUncertain significance
Select item 2576574	NM_003995.4(NPR2):c.1218+4A>G	NPR2	Single nucleotide variant (intron variant)	Short stature with nonspecific skeletal abnormalities +1 more	GConflicting classifications of pathogenicity
Select item 2504095	NM_003995.4(NPR2):c.493del (p.Arg165fs)	NPR2 (R165fs)	Deletion (frameshift variant)	Acromesomelic dysplasia 1, Maroteaux type	GLikely pathogenic
Select item 2431764	NM_003995.4(NPR2):c.1117T>C (p.Tyr373His)	NPR2 (Y373H)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 1, Maroteaux type	GUncertain significance
Select item 2427972	NM_003995.4(NPR2):c.542A>G (p.Tyr181Cys)	NPR2 (Y181C)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GUncertain significance
Select item 2422485	NC_000009.11:g.(?_32453279)_(37785041_?)dup	ANKRD18B, APTX +87 more	Duplication	not provided	GUncertain significance
Select item 2417299	NM_003995.4(NPR2):c.1711-15G>T	NPR2	Single nucleotide variant (intron variant)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GLikely benign
Select item 2197798	NM_003995.4(NPR2):c.681C>T (p.Cys227=)	NPR2	Single nucleotide variant (synonymous variant)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GLikely benign
Select item 2196177	NM_003995.4(NPR2):c.2888-18A>G	NPR2, SPAG8	Single nucleotide variant (intron variant)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GUncertain significance
Select item 2194018	NM_003995.4(NPR2):c.1257G>A (p.Trp419Ter)	NPR2 (W419*)	Single nucleotide variant (nonsense)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GPathogenic
Select item 2191814	NM_003995.4(NPR2):c.2520-7_2520-6del	NPR2	Deletion (intron variant)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GLikely benign
Select item 2187732	NM_003995.4(NPR2):c.388T>G (p.Ser130Ala)	NPR2 (S130A)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GUncertain significance
Select item 2187672	NM_003995.4(NPR2):c.1753G>A (p.Ala585Thr)	NPR2 (A585T +1 more)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GUncertain significance
Select item 2187203	NM_003995.4(NPR2):c.787C>T (p.Arg263Cys)	NPR2 (R263C)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 1, Maroteaux type +2 more	GUncertain significance
Select item 2185520	NM_003995.4(NPR2):c.2756C>T (p.Pro919Leu)	NPR2, SPAG8 (P919L +1 more)	Single nucleotide variant (missense variant +1 more)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GUncertain significance
Select item 2183283	NM_003995.4(NPR2):c.2965C>T (p.Arg989Ter)	NPR2, SPAG8 (R989* +1 more)	Single nucleotide variant (nonsense +1 more)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GPathogenic
Select item 2183048	NM_003995.4(NPR2):c.295C>T (p.Pro99Ser)	NPR2 (P99S)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GUncertain significance
Select item 2181079	NM_003995.4(NPR2):c.2712+12G>A	NPR2	Single nucleotide variant (intron variant)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GLikely benign
Select item 2180510	NM_003995.4(NPR2):c.1076A>C (p.Glu359Ala)	NPR2 (E359A)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GUncertain significance
Select item 2178828	NM_003995.4(NPR2):c.694A>G (p.Met232Val)	NPR2 (M232V)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GUncertain significance
Select item 2174750	NM_003995.4(NPR2):c.1122C>T (p.His374=)	NPR2	Single nucleotide variant (synonymous variant)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GUncertain significance
Select item 2172964	NM_003995.4(NPR2):c.855C>G (p.Ala285=)	NPR2	Single nucleotide variant (synonymous variant)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GLikely benign
Select item 2172426	NM_003995.4(NPR2):c.1112G>A (p.Arg371Gln)	NPR2 (R371Q)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GUncertain significance

<< First< Prev

Page of 5