ClinVar for MedGen (Select 83341) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3251758	NM_000349.3(STAR):c.544C>A (p.Arg182Ser)	STAR (R182S)	Single nucleotide variant (missense variant)	Congenital lipoid adrenal hyperplasia due to STAR deficency	GLikely pathogenic
Select item 3250446	NM_000349.3(STAR):c.349G>A (p.Gly117Ser)	STAR (G117S)	Single nucleotide variant (missense variant)	Congenital lipoid adrenal hyperplasia due to STAR deficency	GUncertain significance
Select item 2626753	NM_000349.3(STAR):c.814C>G (p.Arg272Gly)	STAR (R272G)	Single nucleotide variant (missense variant)	Congenital lipoid adrenal hyperplasia due to STAR deficency	GUncertain significance
Select item 2577277	NM_000349.3(STAR):c.674T>C (p.Met225Thr)	STAR (M225T)	Single nucleotide variant (missense variant)	Congenital lipoid adrenal hyperplasia due to STAR deficency	GLikely pathogenic
Select item 2436503	NM_000349.3(STAR):c.727C>T (p.Leu243Phe)	STAR (L243F)	Single nucleotide variant (missense variant)	Congenital lipoid adrenal hyperplasia due to STAR deficency	GUncertain significance
Select item 1811118	NM_000349.3(STAR):c.306+1G>A	STAR	Single nucleotide variant (splice donor variant)	not provided +1 more	GLikely pathogenic
Select item 1726926	NM_000349.3(STAR):c.503_504insTCGT (p.Glu169fs)	STAR (E169fs)	Insertion (frameshift variant)	Congenital lipoid adrenal hyperplasia due to STAR deficency	GLikely pathogenic
Select item 1726590	NM_000349.3(STAR):c.475A>T (p.Lys159Ter)	STAR (K159*)	Single nucleotide variant (nonsense)	Congenital lipoid adrenal hyperplasia due to STAR deficency	GLikely pathogenic
Select item 1726348	NM_000349.3(STAR):c.203del (p.Tyr68fs)	STAR (Y68fs)	Deletion (frameshift variant)	Congenital lipoid adrenal hyperplasia due to STAR deficency	GLikely pathogenic
Select item 1726250	NM_000349.3(STAR):c.271_272del (p.Ser91fs)	STAR (S91fs)	Deletion (frameshift variant)	Congenital lipoid adrenal hyperplasia due to STAR deficency	GLikely pathogenic
Select item 1725823	NM_000349.3(STAR):c.217_218insCTTCTGCA (p.Leu73fs)	STAR (L73fs)	Insertion (frameshift variant)	Congenital lipoid adrenal hyperplasia due to STAR deficency	GLikely pathogenic
Select item 1725633	NM_000349.3(STAR):c.611_612del (p.Thr204fs)	STAR (T204fs)	Microsatellite (frameshift variant)	Congenital lipoid adrenal hyperplasia due to STAR deficency	GLikely pathogenic
Select item 1725367	NM_000349.3(STAR):c.82_83insA (p.Val28fs)	STAR (V28fs)	Insertion (frameshift variant)	Congenital lipoid adrenal hyperplasia due to STAR deficency	GLikely pathogenic
Select item 1725364	NM_000349.3(STAR):c.97del (p.Gln33fs)	STAR (Q33fs)	Deletion (frameshift variant)	Congenital lipoid adrenal hyperplasia due to STAR deficency	GLikely pathogenic
Select item 1725060	NM_000349.3(STAR):c.436G>T (p.Glu146Ter)	STAR (E146*)	Single nucleotide variant (nonsense)	Congenital lipoid adrenal hyperplasia due to STAR deficency	GLikely pathogenic
Select item 1724309	NM_000349.3(STAR):c.392_393insTG (p.Glu131fs)	STAR (E131fs)	Insertion (frameshift variant)	Congenital lipoid adrenal hyperplasia due to STAR deficency	GLikely pathogenic
Select item 1724306	NM_000349.3(STAR):c.391_392insT (p.Glu131fs)	STAR (E131fs)	Insertion (frameshift variant)	Congenital lipoid adrenal hyperplasia due to STAR deficency	GLikely pathogenic
Select item 1724262	NM_000349.3(STAR):c.229del (p.Gln77fs)	STAR (Q77fs)	Deletion (frameshift variant)	Congenital lipoid adrenal hyperplasia due to STAR deficency	GLikely pathogenic
Select item 1724129	NM_000349.3(STAR):c.503dup (p.His168fs)	STAR (H168fs)	Duplication (frameshift variant)	Congenital lipoid adrenal hyperplasia due to STAR deficency	GLikely pathogenic
Select item 1529262	NM_000349.3(STAR):c.64+7G>C	STAR	Single nucleotide variant (intron variant)	Congenital lipoid adrenal hyperplasia due to STAR deficency +1 more	GLikely benign
Select item 1353843	NM_000349.3(STAR):c.488A>T (p.Asp163Val)	STAR (D163V)	Single nucleotide variant (missense variant)	Congenital lipoid adrenal hyperplasia due to STAR deficency +2 more	GUncertain significance
Select item 1334169	NM_000349.3(STAR):c.815G>A (p.Arg272His)	STAR (R272H)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 1325150	NM_000349.3(STAR):c.650+1G>A	STAR	Single nucleotide variant (splice donor variant)	Congenital lipoid adrenal hyperplasia due to STAR deficency	GLikely pathogenic
Select item 1142481	NM_000349.3(STAR):c.720G>C (p.Thr240=)	STAR	Single nucleotide variant (synonymous variant)	Congenital lipoid adrenal hyperplasia due to STAR deficency +1 more	GLikely benign
Select item 1137020	NM_000349.3(STAR):c.738C>T (p.Asp246=)	STAR	Single nucleotide variant (synonymous variant)	Congenital lipoid adrenal hyperplasia due to STAR deficency +1 more	GLikely benign
Select item 1110345	NM_000349.3(STAR):c.402T>C (p.Tyr134=)	STAR	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1089539	NM_000349.3(STAR):c.759G>A (p.Lys253=)	STAR	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1087524	NM_000349.3(STAR):c.64+9T>C	STAR	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1066647	NM_000349.3(STAR):c.307-1G>A	STAR	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 991272	NM_000349.3(STAR):c.161G>T (p.Arg54Leu)	STAR (R54L)	Single nucleotide variant (missense variant)	Congenital lipoid adrenal hyperplasia due to STAR deficency	GUncertain significance
Select item 957675	NM_000349.3(STAR):c.824T>C (p.Leu275Pro)	STAR (L275P)	Single nucleotide variant (missense variant)	Congenital lipoid adrenal hyperplasia due to STAR deficency +1 more	GPathogenic/Likely pathogenic
Select item 911474	NM_000349.3(STAR):c.-16C>T	LOC108863620, STAR	Single nucleotide variant (5 prime UTR variant)	Congenital lipoid adrenal hyperplasia due to STAR deficency	GUncertain significance
Select item 911473	NM_000349.3(STAR):c.157C>G (p.Arg53Gly)	STAR (R53G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 911472	NM_000349.3(STAR):c.158G>C (p.Arg53Pro)	STAR (R53P)	Single nucleotide variant (missense variant)	Congenital lipoid adrenal hyperplasia due to STAR deficency	GUncertain significance
Select item 911471	NM_000349.3(STAR):c.178+7G>A	STAR	Single nucleotide variant (intron variant)	Congenital lipoid adrenal hyperplasia due to STAR deficency +1 more	GConflicting classifications of pathogenicity
Select item 911405	NM_000349.3(STAR):c.*688C>T	STAR	Single nucleotide variant (3 prime UTR variant)	Congenital lipoid adrenal hyperplasia due to STAR deficency	GUncertain significance
Select item 911404	NM_000349.3(STAR):c.*698C>A	STAR	Single nucleotide variant (3 prime UTR variant)	Congenital lipoid adrenal hyperplasia due to STAR deficency	GUncertain significance
Select item 911403	NM_000349.3(STAR):c.*699C>G	STAR	Single nucleotide variant (3 prime UTR variant)	Congenital lipoid adrenal hyperplasia due to STAR deficency	GUncertain significance
Select item 911402	NM_000349.3(STAR):c.*768G>A	STAR	Single nucleotide variant (3 prime UTR variant)	Congenital lipoid adrenal hyperplasia due to STAR deficency	GUncertain significance
Select item 911401	NM_000349.3(STAR):c.*880C>T	STAR	Single nucleotide variant (3 prime UTR variant)	Congenital lipoid adrenal hyperplasia due to STAR deficency	GUncertain significance
Select item 911273	NM_000349.3(STAR):c.179-14G>A	STAR	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 911272	NM_000349.3(STAR):c.312T>C (p.Asn104=)	STAR	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 911271	NM_000349.3(STAR):c.411C>T (p.Leu137=)	STAR	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 911210	NM_000349.3(STAR):c.*897C>T	STAR	Single nucleotide variant (3 prime UTR variant)	Congenital lipoid adrenal hyperplasia due to STAR deficency	GUncertain significance
Select item 911209	NM_000349.3(STAR):c.*930C>T	STAR	Single nucleotide variant (3 prime UTR variant)	Congenital lipoid adrenal hyperplasia due to STAR deficency	GUncertain significance
Select item 911208	NM_000349.3(STAR):c.*1472C>T	STAR	Single nucleotide variant (3 prime UTR variant)	Congenital lipoid adrenal hyperplasia due to STAR deficency	GUncertain significance
Select item 911207	NM_000349.3(STAR):c.*1473G>A	STAR	Single nucleotide variant (3 prime UTR variant)	Congenital lipoid adrenal hyperplasia due to STAR deficency	GUncertain significance
Select item 909276	NM_000349.3(STAR):c.650+13G>T	STAR	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 909275	NM_000349.3(STAR):c.731G>A (p.Ser244Asn)	STAR (S244N)	Single nucleotide variant (missense variant)	Congenital lipoid adrenal hyperplasia due to STAR deficency	GUncertain significance
Select item 909209	NM_000349.3(STAR):c.*1513C>G	STAR	Single nucleotide variant (3 prime UTR variant)	Congenital lipoid adrenal hyperplasia due to STAR deficency	GUncertain significance
Select item 909208	NM_000349.3(STAR):c.*1557A>G	STAR	Single nucleotide variant (3 prime UTR variant)	Congenital lipoid adrenal hyperplasia due to STAR deficency	GUncertain significance
Select item 908499	NC_000008.11:g.38150990G>A	LOC108863620, STAR	Single nucleotide variant	Congenital lipoid adrenal hyperplasia due to STAR deficency +1 more	GBenign/Likely benign
Select item 908498	NM_000349.2(STAR):c.-152G>A	LOC108863620, STAR	Single nucleotide variant	Congenital lipoid adrenal hyperplasia due to STAR deficency	GUncertain significance
Select item 908430	NM_000349.3(STAR):c.*187T>C	STAR	Single nucleotide variant (3 prime UTR variant)	Congenital lipoid adrenal hyperplasia due to STAR deficency	GUncertain significance
Select item 908429	NM_000349.3(STAR):c.*395G>A	STAR	Single nucleotide variant (3 prime UTR variant)	Congenital lipoid adrenal hyperplasia due to STAR deficency	GUncertain significance
Select item 908428	NM_000349.3(STAR):c.*456C>T	STAR	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign
Select item 908427	NM_000349.3(STAR):c.*550A>C	STAR	Single nucleotide variant (3 prime UTR variant)	Congenital lipoid adrenal hyperplasia due to STAR deficency	GUncertain significance
Select item 778392	NM_000349.3(STAR):c.687G>A (p.Pro229=)	STAR	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 765428	NM_000349.3(STAR):c.792G>A (p.Gln264=)	STAR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 764058	NM_000349.3(STAR):c.108C>T (p.Asn36=)	STAR	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 736390	NM_000349.3(STAR):c.158G>T (p.Arg53Leu)	STAR (R53L)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 730437	NM_000349.3(STAR):c.306+10G>A	STAR	Single nucleotide variant (intron variant)	Congenital lipoid adrenal hyperplasia due to STAR deficency +1 more	GConflicting classifications of pathogenicity
Select item 729748	NM_000349.3(STAR):c.481G>A (p.Gly161Arg)	STAR (G161R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 717333	NM_000349.3(STAR):c.141G>A (p.Thr47=)	STAR	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 709261	NM_000349.3(STAR):c.433G>A (p.Gly145Arg)	STAR (G145R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 661662	NM_000349.3(STAR):c.661G>A (p.Gly221Ser)	STAR (G221S)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 632520	NM_000349.3(STAR):c.125dup (p.Thr44fs)	STAR (T44fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 586680	NM_000349.3(STAR):c.201_202del (p.Tyr68fs)	STAR (Y68fs)	Microsatellite (frameshift variant)	not provided +1 more	GPathogenic
Select item 558587	NM_000349.3(STAR):c.745-1_757del	STAR	Deletion (splice acceptor variant)	Congenital lipoid adrenal hyperplasia due to STAR deficency	GLikely pathogenic
Select item 558210	NM_000349.3(STAR):c.651-1G>C	STAR	Single nucleotide variant (splice acceptor variant)	Congenital lipoid adrenal hyperplasia due to STAR deficency	GLikely pathogenic
Select item 558205	NM_000349.3(STAR):c.695del (p.Gly232fs)	STAR (G232fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 558171	NM_000349.3(STAR):c.714del (p.Lys238fs)	STAR (K238fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 557853	NM_000349.3(STAR):c.64+2T>C	STAR	Single nucleotide variant (splice donor variant)	Congenital lipoid adrenal hyperplasia due to STAR deficency	GLikely pathogenic
Select item 557765	NM_000349.3(STAR):c.466-11T>A	STAR	Single nucleotide variant (intron variant)	Congenital lipoid adrenal hyperplasia due to STAR deficency	GUncertain significance
Select item 557688	NM_000349.3(STAR):c.178+1G>C	STAR	Single nucleotide variant (splice donor variant)	not provided +1 more	GLikely pathogenic
Select item 556387	NM_000349.3(STAR):c.811del (p.Leu271fs)	STAR (L271fs)	Deletion (frameshift variant)	Congenital lipoid adrenal hyperplasia due to STAR deficency +1 more	GPathogenic/Likely pathogenic
Select item 555439	NM_000349.3(STAR):c.179-2A>G	STAR	Single nucleotide variant (splice acceptor variant)	Congenital lipoid adrenal hyperplasia due to STAR deficency	GLikely pathogenic
Select item 554752	NM_000349.3(STAR):c.677del (p.Val226fs)	STAR (V226fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 554730	NM_000349.3(STAR):c.716_732del (p.Leu239fs)	STAR (L239fs)	Deletion (frameshift variant)	Congenital lipoid adrenal hyperplasia due to STAR deficency	GLikely pathogenic
Select item 553713	NM_000349.3(STAR):c.229C>T (p.Gln77Ter)	STAR (Q77*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 553482	NM_000349.3(STAR):c.779T>C (p.Leu260Pro)	STAR (L260P)	Single nucleotide variant (missense variant)	Congenital lipoid adrenal hyperplasia due to STAR deficency +1 more	GPathogenic/Likely pathogenic
Select item 553117	NM_000349.3(STAR):c.563G>A (p.Arg188His)	STAR (R188H)	Single nucleotide variant (missense variant)	Congenital lipoid adrenal hyperplasia due to STAR deficency	GUncertain significance
Select item 551640	NM_000349.3(STAR):c.298_299del (p.Gln101fs)	STAR (Q101fs)	Microsatellite (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 551528	NM_000349.3(STAR):c.149_157del (p.Asn50_Val52del)	STAR	Deletion (inframe_deletion)	Congenital lipoid adrenal hyperplasia due to STAR deficency	GUncertain significance
Select item 551230	NM_000349.3(STAR):c.574C>T (p.Arg192Cys)	STAR (R192C)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 551209	NM_000349.3(STAR):c.801dup (p.Ala268fs)	STAR (A268fs)	Duplication (frameshift variant)	Congenital lipoid adrenal hyperplasia due to STAR deficency	GLikely pathogenic
Select item 550998	NM_000349.3(STAR):c.64+1G>T	STAR	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic
Select item 550766	NM_000349.3(STAR):c.814C>T (p.Arg272Cys)	STAR (R272C)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 550550	NM_000349.3(STAR):c.544C>T (p.Arg182Cys)	STAR (R182C)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 550533	NM_000349.3(STAR):c.289AAG[1] (p.Lys98del)	STAR (K98del)	Microsatellite (inframe_deletion)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 448534	NM_000349.3(STAR):c.745-1G>C	STAR	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 448533	NM_000349.3(STAR):c.505G>A (p.Glu169Lys)	STAR (E169K)	Single nucleotide variant (missense variant)	Syndactyly-telecanthus-anogenital and renal malformations syndrome +2 more	GPathogenic/Likely pathogenic
Select item 448532	NM_000349.3(STAR):c.465+20A>G	STAR	Single nucleotide variant (intron variant)	Congenital lipoid adrenal hyperplasia due to STAR deficency +2 more	GBenign
Select item 370502	NM_000349.3(STAR):c.629_630del (p.Pro210fs)	STAR (P210fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 362853	NM_000349.2(STAR):c.-255G>T	LOC108863620, STAR	Single nucleotide variant	Congenital lipoid adrenal hyperplasia due to STAR deficency	GUncertain significance
Select item 362852	NM_000349.2(STAR):c.-249C>A	LOC108863620, STAR	Single nucleotide variant	Congenital lipoid adrenal hyperplasia due to STAR deficency	GUncertain significance
Select item 362851	NM_000349.3(STAR):c.-70G>T	LOC108863620, STAR	Single nucleotide variant (5 prime UTR variant)	Congenital lipoid adrenal hyperplasia due to STAR deficency	GUncertain significance
Select item 362850	NM_000349.3(STAR):c.120G>A (p.Leu40=)	STAR	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 362849	NM_000349.3(STAR):c.153G>A (p.Gln51=)	STAR	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 362848	NM_000349.3(STAR):c.178+9T>C	STAR	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity

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