NCKIPSD[gene] - ClinVar

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Items: 78

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144168	GRCh38/hg38 3p21.31-21.2(chr3:45879883-50749922)x4	ALS2CL, AMIGO3 +379 more	Copy number gain	See cases	GPathogenic
Select item 2206305	NM_016453.4(NCKIPSD):c.2110C>T (p.Arg704Cys)	NCKIPSD (R704C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254984	NM_016453.4(NCKIPSD):c.2099G>A (p.Cys700Tyr)	NCKIPSD (C693Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183174	NM_016453.4(NCKIPSD):c.2096A>G (p.Gln699Arg)	NCKIPSD (Q692R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207618	NM_016453.4(NCKIPSD):c.2042C>G (p.Pro681Arg)	NCKIPSD (P674R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183168	NM_016453.4(NCKIPSD):c.2035C>T (p.Arg679Trp)	NCKIPSD (R679W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3403435	NM_016453.4(NCKIPSD):c.2029C>T (p.Arg677Cys)	NCKIPSD (R677C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183163	NM_016453.4(NCKIPSD):c.2001A>G (p.Ile667Met)	NCKIPSD (I660M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205642	NM_016453.4(NCKIPSD):c.1999A>G (p.Ile667Val)	NCKIPSD (I660V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2289620	NM_016453.4(NCKIPSD):c.1993C>T (p.His665Tyr)	NCKIPSD (H658Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183160	NM_016453.4(NCKIPSD):c.1942G>A (p.Ala648Thr)	NCKIPSD (A641T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407826	NM_016453.4(NCKIPSD):c.1933C>T (p.Arg645Trp)	NCKIPSD (R645W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368627	NM_016453.4(NCKIPSD):c.1871G>A (p.Ser624Asn)	NCKIPSD (S617N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298808	NM_016453.4(NCKIPSD):c.1862T>C (p.Val621Ala)	NCKIPSD (V614A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495512	NM_016453.4(NCKIPSD):c.1835A>C (p.His612Pro)	NCKIPSD (H605P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3403432	NM_016453.4(NCKIPSD):c.1832C>G (p.Pro611Arg)	NCKIPSD (P611R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299620	NM_016453.4(NCKIPSD):c.1805G>T (p.Arg602Leu)	NCKIPSD (R595L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517631	NM_016453.4(NCKIPSD):c.1741G>A (p.Ala581Thr)	NCKIPSD (A574T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2376449	NM_016453.4(NCKIPSD):c.1712A>G (p.Asn571Ser)	NCKIPSD (N564S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322655	NM_016453.4(NCKIPSD):c.1684A>C (p.Asn562His)	NCKIPSD (N562H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3403433	NM_016453.4(NCKIPSD):c.1573C>T (p.His525Tyr)	NCKIPSD (H525Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284280	NM_016453.4(NCKIPSD):c.1484C>T (p.Thr495Met)	NCKIPSD (T488M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3403441	NM_016453.4(NCKIPSD):c.1430C>T (p.Thr477Met)	NCKIPSD (T477M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 787791	NM_016453.4(NCKIPSD):c.1380C>T (p.Leu460=)	NCKIPSD	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3298806	NM_016453.4(NCKIPSD):c.1373T>G (p.Leu458Arg)	NCKIPSD (L458R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183119	NM_016453.4(NCKIPSD):c.1361C>T (p.Ala454Val)	NCKIPSD (A447V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2215288	NM_016453.4(NCKIPSD):c.1332G>C (p.Leu444Phe)	NCKIPSD (L444F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183102	NM_016453.4(NCKIPSD):c.1309G>A (p.Glu437Lys)	NCKIPSD (E437K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3403440	NM_016453.4(NCKIPSD):c.1231C>T (p.Arg411Cys)	NCKIPSD (R411C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215287	NM_016453.4(NCKIPSD):c.1226T>C (p.Val409Ala)	NCKIPSD (V409A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392227	NM_016453.4(NCKIPSD):c.1187C>T (p.Ala396Val)	NCKIPSD (A389V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298804	NM_016453.4(NCKIPSD):c.1186G>A (p.Ala396Thr)	NCKIPSD (A396T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593577	NM_016453.4(NCKIPSD):c.1174C>T (p.Arg392Trp)	NCKIPSD (R385W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298810	NM_016453.4(NCKIPSD):c.1171C>G (p.Arg391Gly)	NCKIPSD (R391G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183087	NM_016453.4(NCKIPSD):c.1165C>G (p.Leu389Val)	NCKIPSD (L389V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183085	NM_016453.4(NCKIPSD):c.1127G>C (p.Cys376Ser)	NCKIPSD (C376S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298805	NM_016453.4(NCKIPSD):c.994C>T (p.Arg332Trp)	NCKIPSD (R325W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183238	NM_016453.4(NCKIPSD):c.985G>A (p.Glu329Lys)	NCKIPSD (E329K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183236	NM_016453.4(NCKIPSD):c.961C>T (p.Arg321Trp)	NCKIPSD (R314W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3403439	NM_016453.4(NCKIPSD):c.917C>T (p.Ala306Val)	NCKIPSD (A299V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2588435	NM_016453.4(NCKIPSD):c.881G>T (p.Ser294Ile)	NCKIPSD (S294I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3403434	NM_016453.4(NCKIPSD):c.859C>G (p.Leu287Val)	NCKIPSD (L287V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298807	NM_016453.4(NCKIPSD):c.782C>T (p.Pro261Leu)	NCKIPSD (P254L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183229	NM_016453.4(NCKIPSD):c.731C>G (p.Pro244Arg)	NCKIPSD (P237R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239015	NM_016453.4(NCKIPSD):c.622G>A (p.Gly208Arg)	NCKIPSD (G201R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605262	NM_016453.4(NCKIPSD):c.608A>C (p.Asn203Thr)	NCKIPSD (N203T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207133	NM_016453.4(NCKIPSD):c.607A>G (p.Asn203Asp)	NCKIPSD (N203D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183214	NM_016453.4(NCKIPSD):c.571C>T (p.Arg191Cys)	NCKIPSD (R184C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353477	NM_016453.4(NCKIPSD):c.566G>A (p.Arg189Gln)	NCKIPSD (R182Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298812	NM_016453.4(NCKIPSD):c.551C>G (p.Pro184Arg)	NCKIPSD (P184R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363055	NM_016453.4(NCKIPSD):c.523C>T (p.Arg175Cys)	NCKIPSD (R168C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478409	NM_016453.4(NCKIPSD):c.476G>A (p.Gly159Asp)	NCKIPSD (G159D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3403431	NM_016453.4(NCKIPSD):c.469G>A (p.Asp157Asn)	NCKIPSD (D157N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508587	NM_016453.4(NCKIPSD):c.445C>G (p.Pro149Ala)	NCKIPSD (P149A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355387	NM_016453.4(NCKIPSD):c.438C>G (p.His146Gln)	NCKIPSD (H146Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3403437	NM_016453.4(NCKIPSD):c.418G>C (p.Ala140Pro)	NCKIPSD (A140P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240063	NM_016453.4(NCKIPSD):c.409G>T (p.Val137Leu)	NCKIPSD (V137L)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3403436	NM_016453.4(NCKIPSD):c.346G>A (p.Val116Ile)	NCKIPSD (V116I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298967	NM_016453.4(NCKIPSD):c.331G>T (p.Ala111Ser)	NCKIPSD (A111S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183191	NM_016453.4(NCKIPSD):c.320G>A (p.Arg107Lys)	NCKIPSD (R107K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407889	NM_016453.4(NCKIPSD):c.317G>A (p.Arg106His)	NCKIPSD (R106H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298802	NM_016453.4(NCKIPSD):c.313T>A (p.Ser105Thr)	NCKIPSD (S105T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488355	NM_016453.4(NCKIPSD):c.299G>A (p.Arg100Gln)	NCKIPSD (R100Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328634	NM_016453.4(NCKIPSD):c.289A>G (p.Ile97Val)	NCKIPSD (I97V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298803	NM_016453.4(NCKIPSD):c.205C>T (p.Arg69Trp)	NCKIPSD (R69W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2653805	NM_016453.4(NCKIPSD):c.172-5C>A	NCKIPSD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2653804	NM_016453.4(NCKIPSD):c.172-5C>G	NCKIPSD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2221778	NM_016453.4(NCKIPSD):c.137G>A (p.Gly46Asp)	LOC122889085, NCKIPSD (G46D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298811	NM_016453.4(NCKIPSD):c.37C>G (p.Pro13Ala)	LOC122889085, NCKIPSD (P13A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3247055	NC_000003.11:g.(?_47894522)_(49060605_?)del	ARIH2, ARIH2OS +29 more	Deletion	not provided	GUncertain significance
Select item 2425284	NC_000003.11:g.(?_45435946)_(49137751_?)dup	ALS2CL, ARIH2 +66 more	Duplication	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GUncertain significance
Select item 1341974	GRCh37/hg19 3p21.31(chr3:44948482-49115809)x1	NCKIPSD, NDUFAF3 +71 more	Copy number loss	not provided	GPathogenic
Select item 1068732	NC_000003.11:g.(?_48507870)_(50340407_?)del	ARIH2, ARIH2OS +62 more	Deletion	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations +2 more	GPathogenic
Select item 814442	GRCh37/hg19 3p21.31(chr3:48346677-49630228)x1	PRKAR2A, ATRIP +42 more	Copy number loss	not provided	GPathogenic
Select item 625696	GRCh37/hg19 3p21.31-21.1(chr3:45153770-53878616)	APEH, HEMK1 +177 more	Copy number gain	not provided	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 253356	GRCh37/hg19 3p22.2-21.31(chr3:37028313-49929220)x3	ABHD5, ACAA1 +177 more	Copy number gain	See cases	GLikely pathogenic

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Items: 78