STAR[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 362825	NM_000349.3(STAR):c.*1543C>A	STAR	Single nucleotide variant (3 prime UTR variant)	Congenital lipoid adrenal hyperplasia due to STAR deficency	GUncertain significance
Select item 362826	NM_000349.3(STAR):c.*1524A>G	STAR	Single nucleotide variant (3 prime UTR variant)	Congenital lipoid adrenal hyperplasia due to STAR deficency	GBenign
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 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 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 362827	NM_000349.3(STAR):c.*1384del	STAR	Deletion (3 prime UTR variant)	Congenital adrenal hyperplasia	GUncertain significance
Select item 362828	NM_000349.3(STAR):c.*1122T>A	STAR	Single nucleotide variant (3 prime UTR variant)	Congenital lipoid adrenal hyperplasia due to STAR deficency	GUncertain significance
Select item 362829	NM_000349.3(STAR):c.*987A>G	STAR	Single nucleotide variant (3 prime UTR variant)	Congenital lipoid adrenal hyperplasia due to STAR deficency	GBenign
Select item 362830	NM_000349.3(STAR):c.*981A>G	STAR	Single nucleotide variant (3 prime UTR variant)	Congenital lipoid adrenal hyperplasia due to STAR deficency	GUncertain significance
Select item 362831	NM_000349.3(STAR):c.965_967dup	STAR	Duplication (3 prime UTR variant)	Congenital adrenal hyperplasia	GUncertain significance
Select item 362832	NM_000349.3(STAR):c.*967del	STAR	Deletion (3 prime UTR variant)	Congenital adrenal hyperplasia	GBenign
Select item 362833	NM_000349.3(STAR):c.*948del	STAR	Deletion (3 prime UTR variant)	Congenital adrenal hyperplasia	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 362834	NM_000349.3(STAR):c.*913C>T	STAR	Single nucleotide variant (3 prime UTR variant)	Congenital lipoid adrenal hyperplasia due to STAR deficency	GUncertain significance
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 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 362835	NM_000349.3(STAR):c.*818G>A	STAR	Single nucleotide variant (3 prime UTR variant)	Congenital lipoid adrenal hyperplasia due to STAR deficency	GUncertain significance
Select item 362836	NM_000349.3(STAR):c.*817C>T	STAR	Single nucleotide variant (3 prime UTR variant)	Congenital lipoid adrenal hyperplasia due to STAR deficency	GUncertain significance
Select item 362837	NM_000349.3(STAR):c.*796A>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 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 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 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 362838	NM_000349.3(STAR):c.*556A>G	STAR	Single nucleotide variant (3 prime UTR variant)	Congenital lipoid adrenal hyperplasia due to STAR deficency	GUncertain significance
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 908428	NM_000349.3(STAR):c.*456C>T	STAR	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign
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 362839	NM_000349.3(STAR):c.*348C>T	STAR	Single nucleotide variant (3 prime UTR variant)	Congenital lipoid adrenal hyperplasia due to STAR deficency	GUncertain significance
Select item 362840	NM_000349.3(STAR):c.*230A>G	STAR	Single nucleotide variant (3 prime UTR 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 362841	NM_000349.3(STAR):c.*116T>G	STAR	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 362842	NM_000349.3(STAR):c.*93C>T	STAR	Single nucleotide variant (3 prime UTR variant)	Congenital lipoid adrenal hyperplasia due to STAR deficency	GUncertain significance
Select item 362843	NM_000349.3(STAR):c.*88G>C	STAR	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 1666967	NM_000349.3(STAR):c.855T>C (p.Cys285=)	STAR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2865215	NM_000349.3(STAR):c.837T>C (p.Pro279=)	STAR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1424512	NM_000349.3(STAR):c.827A>T (p.Glu276Val)	STAR (E276V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 957675	NM_000349.3(STAR):c.824T>C (p.Leu275Pro)	STAR (L275P)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2593599	NM_000349.3(STAR):c.821G>A (p.Arg274His)	STAR (R274H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2214960	NM_000349.3(STAR):c.820C>T (p.Arg274Cys)	STAR (R274C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1110647	NM_000349.3(STAR):c.819G>A (p.Lys273=)	STAR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 550766	NM_000349.3(STAR):c.814C>T (p.Arg272Cys)	STAR (R272C)	Single nucleotide variant (missense variant)	Congenital lipoid adrenal hyperplasia due to STAR deficency +1 more	GPathogenic/Likely pathogenic
Select item 556387	NM_000349.3(STAR):c.811del (p.Leu271fs)	STAR (L271fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1154744	NM_000349.3(STAR):c.810C>T (p.His270=)	STAR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1139385	NM_000349.3(STAR):c.795G>A (p.Val265=)	STAR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 765428	NM_000349.3(STAR):c.792G>A (p.Gln264=)	STAR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2054975	NM_000349.3(STAR):c.789C>A (p.Thr263=)	STAR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1531836	NM_000349.3(STAR):c.789C>G (p.Thr263=)	STAR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1995298	NM_000349.3(STAR):c.787A>G (p.Thr263Ala)	STAR (T263A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1071071	NM_000349.3(STAR):c.784del (p.Gln262fs)	STAR (Q262fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2799812	NM_000349.3(STAR):c.783C>T (p.Ser261=)	STAR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2054978	NM_000349.3(STAR):c.783C>A (p.Ser261=)	STAR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1155162	NM_000349.3(STAR):c.777C>A (p.Val259=)	STAR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 8987	NM_000349.3(STAR):c.772C>T (p.Gln258Ter)	STAR (Q258*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1634092	NM_000349.3(STAR):c.765C>A (p.Ile255=)	STAR	Single nucleotide variant (synonymous variant)	not provided	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 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 1100203	NM_000349.3(STAR):c.753G>A (p.Leu251=)	STAR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 8991	NM_000349.3(STAR):c.749G>A (p.Trp250Ter)	STAR (W250*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1349730	NM_000349.3(STAR):c.745-1_745delinsAA	STAR	Indel (splice acceptor variant)	not provided	GLikely pathogenic
Select item 448534	NM_000349.3(STAR):c.745-1G>C	STAR	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2857806	NM_000349.3(STAR):c.745-6C>T	STAR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1663357	NM_000349.3(STAR):c.745-9C>T	STAR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2873903	NM_000349.3(STAR):c.745-12C>T	STAR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2918267	NM_000349.3(STAR):c.745-16C>T	STAR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2916524	NM_000349.3(STAR):c.745-17C>A	STAR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2915704	NM_000349.3(STAR):c.745-19C>G	STAR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1290027	NM_000349.3(STAR):c.744+211_744+212del	STAR	Deletion (intron variant)	not provided	GBenign
Select item 1262645	NM_000349.3(STAR):c.744+212del	STAR	Deletion (intron variant)	not provided	GBenign
Select item 2718435	NM_000349.3(STAR):c.744+20G>C	STAR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2956186	NM_000349.3(STAR):c.744+19G>A	STAR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2896219	NM_000349.3(STAR):c.744+18G>A	STAR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2845089	NM_000349.3(STAR):c.744+16G>C	STAR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3019244	NM_000349.3(STAR):c.744+15A>G	STAR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1113470	NM_000349.3(STAR):c.744+8del	STAR	Deletion (intron variant)	not provided	GLikely benign
Select item 1128616	NM_000349.3(STAR):c.744+7G>A	STAR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2014844	NM_000349.3(STAR):c.743A>G (p.Lys248Arg)	STAR (K248R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2287137	NM_000349.3(STAR):c.742A>G (p.Lys248Glu)	STAR (K248E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 1117256	NM_000349.3(STAR):c.735C>T (p.Ile245=)	STAR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 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 2830333	NM_000349.3(STAR):c.723G>A (p.Trp241Ter)	STAR (W241*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1671842	NM_000349.3(STAR):c.720G>A (p.Thr240=)	STAR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1142481	NM_000349.3(STAR):c.720G>C (p.Thr240=)	STAR	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1078782	NM_000349.3(STAR):c.720G>T (p.Thr240=)	STAR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1076650	NM_000349.3(STAR):c.719del (p.Thr240fs)	STAR (T240fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2734511	NM_000349.3(STAR):c.717T>C (p.Leu239=)	STAR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2039092	NM_000349.3(STAR):c.661_713dup (p.Leu239fs)	STAR (L239fs)	Duplication (frameshift variant)	not provided	GPathogenic
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 2101047	NM_000349.3(STAR):c.707_708delinsCTT (p.Lys236fs)	STAR (K236fs)	Indel (frameshift variant)	not provided	GPathogenic
Select item 1134917	NM_000349.3(STAR):c.708G>A (p.Lys236=)	STAR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3170935	NM_000349.3(STAR):c.704C>G (p.Ser235Cys)	STAR (S235C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1412308	NM_000349.3(STAR):c.701_702dup (p.Ser235fs)	STAR (S235fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 558205	NM_000349.3(STAR):c.695del (p.Gly232fs)	STAR (G232fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic

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