STAR[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC105379224, LOC105379230 +3657 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 151133	GRCh38/hg38 8p23.1-11.22(chr8:7141697-38695546)x3	DPYSL2, DUSP26 +1020 more	Copy number gain	See cases	GPathogenic
Select item 148174	GRCh38/hg38 8p23.1-11.1(chr8:12182421-43673207)x3	LOC130000106, LOC130000107 +937 more	Copy number gain	See cases	GPathogenic
Select item 146257	GRCh38/hg38 8p23.1-11.1(chr8:12383584-43673207)x3	LOC130000241, LOC130000242 +934 more	Copy number gain	See cases	GPathogenic
Select item 161033	GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3	LOC129999967, LOC129999968 +870 more	Copy number gain	See cases	GPathogenic
Select item 146507	GRCh38/hg38 8p23.1-11.1(chr8:12609975-43673207)x3	KAT6A-AS1, KCNU1 +929 more	Copy number gain	See cases	GPathogenic
Select item 59764	GRCh38/hg38 8p23.1-11.1(chr8:12609975-43336172)x3	LOC130000074, LOC130000075 +929 more	Copy number gain	See cases	GPathogenic
Select item 34276	GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3	ADAM18, ADAM2 +870 more	Copy number gain	See cases	GPathogenic
Select item 155441	GRCh38/hg38 8p23.1-11.21(chr8:12633490-40685533)x3	LOC124153144, LOC124153145 +818 more	Copy number gain	See cases	GPathogenic
Select item 151014	GRCh38/hg38 8p23.1-11.1(chr8:12646123-43686843)x3	LOC113788268, LOC113788269 +929 more	Copy number gain	See cases	GPathogenic
Select item 161019	GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3	LOC130000303, LOC130000304 +922 more	Copy number gain	See cases	GPathogenic
Select item 147303	GRCh38/hg38 8p23.1-11.21(chr8:12728904-40169194)x3	LOC113788272, LOC113788273 +807 more	Copy number gain	See cases	GPathogenic
Select item 57410	GRCh38/hg38 8p23.1-11.21(chr8:12728904-41928741)x3	LOC130000012, LOC130000013 +857 more	Copy number gain	See cases	GPathogenic
Select item 32941	GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3	ADAM18, ADAM2 +922 more	Copy number gain	See cases	GPathogenic
Select item 150985	GRCh38/hg38 8p23.1-11.22(chr8:12729023-39235934)x3	LOC130000050, LOC130000051 +791 more	Copy number gain	See cases	GPathogenic
Select item 59766	GRCh38/hg38 8p23.1-11.1(chr8:12750796-43532444)x3	ADAM18, ADAM2 +922 more	Copy number gain	See cases	GPathogenic
Select item 59769	GRCh38/hg38 8p22-q11.21(chr8:14940110-47929925)x3	LOC130000309, LOC130000310 +900 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 57237	GRCh38/hg38 8p21.2-q11.21(chr8:25832130-48521849)x3	LOC130000135, LOC130000136 +593 more	Copy number gain	See cases	GPathogenic
Select item 147723	GRCh38/hg38 8p12-11.21(chr8:29362097-40231708)x1	ADAM18, ADAM2 +288 more	Copy number loss	See cases	GPathogenic
Select item 57312	GRCh38/hg38 8p12-q11.21(chr8:29719897-48521849)x3	ADAM18, ADAM2 +419 more	Copy number gain	See cases	GPathogenic
Select item 57114	GRCh38/hg38 8p12-11.21(chr8:34312250-43158901)x1	ADAM18, ADAM2 +276 more	Copy number loss	See cases	GPathogenic
Select item 150770	GRCh38/hg38 8p12-q12.1(chr8:36580103-59618998)x3	ADAM18, ADAM2 +543 more	Copy number gain	See cases	GPathogenic
Select item 2579179	GRCh38/hg38 8p11.23-11.22(chr8:37814644-38528889)x1	ADGRA2, ADRB3 +53 more	Copy number loss	Hypogonadotropic hypogonadism 2 with or without anosmia	GPathogenic
Select item 59782	GRCh38/hg38 8p11.23-11.21(chr8:37899430-42371734)x3	ADAM18, ADAM2 +180 more	Copy number gain	See cases	GPathogenic
Select item 150494	GRCh38/hg38 8p11.23-11.22(chr8:38046362-39172253)x1	ADAM32, ADAM9 +79 more	Copy number loss	See cases	GPathogenic
Select item 145616	GRCh38/hg38 8p11.23-11.21(chr8:38065927-40341650)x1	ADAM18, ADAM2 +98 more	Copy number loss	See cases	GPathogenic
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)	Congenital lipoid adrenal hyperplasia due to STAR deficency +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

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