ClinVar for Gene (Select 340527) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3246916	NC_000023.10:g.(?_63409759)_(71933728_?)dup	AWAT1, AWAT2 +55 more	Duplication	not provided	GUncertain significance
Select item 3242589	GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	MIR1468, MIR1587 +2598 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 3199869	NM_001013627.3(NHSL2):c.931A>C (p.Thr311Pro)	NHSL2 (T311P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199868	NM_001013627.3(NHSL2):c.884G>T (p.Arg295Leu)	NHSL2 (R295L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199867	NM_001013627.3(NHSL2):c.845G>A (p.Arg282Gln)	NHSL2 (R282Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199866	NM_001013627.3(NHSL2):c.574C>T (p.Arg192Trp)	NHSL2 (R192W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199865	NM_001013627.3(NHSL2):c.3491G>A (p.Ser1164Asn)	NHSL2 (S1164N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199864	NM_001013627.3(NHSL2):c.3467C>T (p.Ser1156Phe)	NHSL2 (S1156F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199863	NM_001013627.3(NHSL2):c.3401T>C (p.Phe1134Ser)	NHSL2 (F1134S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199862	NM_001013627.3(NHSL2):c.3328A>G (p.Thr1110Ala)	NHSL2 (T1110A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199861	NM_001013627.3(NHSL2):c.3167G>A (p.Gly1056Asp)	NHSL2 (G1056D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199860	NM_001013627.3(NHSL2):c.3133T>A (p.Cys1045Ser)	NHSL2 (C1045S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199859	NM_001013627.3(NHSL2):c.2830C>A (p.Pro944Thr)	NHSL2 (P944T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199858	NM_001013627.3(NHSL2):c.2746C>T (p.Leu916Phe)	NHSL2 (L916F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199857	NM_001013627.3(NHSL2):c.2665C>T (p.Pro889Ser)	NHSL2 (P889S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199855	NM_001013627.3(NHSL2):c.1864G>C (p.Ala622Pro)	NHSL2 (A622P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199854	NM_001013627.3(NHSL2):c.1525G>A (p.Asp509Asn)	NHSL2 (D509N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199853	NM_001013627.3(NHSL2):c.1066C>T (p.His356Tyr)	NHSL2 (H356Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199852	NM_001013627.3(NHSL2):c.1055C>T (p.Pro352Leu)	NHSL2 (P352L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156936	NM_001405151.1(RTL5):c.935G>C (p.Arg312Pro)	NHSL2, RTL5 (R312P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156935	NM_001405151.1(RTL5):c.927A>T (p.Arg309Ser)	NHSL2, RTL5 (R309S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156934	NM_001405151.1(RTL5):c.623A>G (p.Gln208Arg)	NHSL2, RTL5 (Q208R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156933	NM_001405151.1(RTL5):c.490G>A (p.Ala164Thr)	NHSL2, RTL5 (A164T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156932	NM_001405151.1(RTL5):c.469T>C (p.Ser157Pro)	NHSL2, RTL5 (S157P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156931	NM_001405151.1(RTL5):c.449G>A (p.Arg150Gln)	NHSL2, RTL5 (R150Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156930	NM_001405151.1(RTL5):c.251T>C (p.Leu84Pro)	NHSL2, RTL5 (L84P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156929	NM_001405151.1(RTL5):c.217C>T (p.Leu73Phe)	NHSL2, RTL5 (L73F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156928	NM_001405151.1(RTL5):c.178A>G (p.Ile60Val)	NHSL2, RTL5 (I60V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3156927	NM_001405151.1(RTL5):c.1637G>A (p.Arg546His)	NHSL2, RTL5 (R546H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156926	NM_001405151.1(RTL5):c.1598G>A (p.Arg533His)	NHSL2, RTL5 (R533H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156925	NM_001405151.1(RTL5):c.1583C>G (p.Ser528Cys)	NHSL2, RTL5 (S528C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156924	NM_001405151.1(RTL5):c.1532G>A (p.Arg511Gln)	NHSL2, RTL5 (R511Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156923	NM_001405151.1(RTL5):c.1468G>C (p.Ala490Pro)	NHSL2, RTL5 (A490P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156922	NM_001405151.1(RTL5):c.1429G>C (p.Ala477Pro)	NHSL2, RTL5 (A477P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156921	NM_001405151.1(RTL5):c.1264G>C (p.Asp422His)	NHSL2, RTL5 (D422H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156919	NM_001405151.1(RTL5):c.1259G>A (p.Ser420Asn)	NHSL2, RTL5 (S420N)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3156918	NM_001405151.1(RTL5):c.11C>T (p.Ala4Val)	NHSL2, RTL5 (A4V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156917	NM_001405151.1(RTL5):c.1138G>A (p.Glu380Lys)	NHSL2, RTL5 (E380K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156916	NM_001405151.1(RTL5):c.1094G>C (p.Arg365Pro)	NHSL2, RTL5 (R365P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156915	NM_001405151.1(RTL5):c.1001A>G (p.Asn334Ser)	NHSL2, RTL5 (N334S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062482	GRCh37/hg19 Xq11.1-21.1(chrX:61877278-79122848)	ABCB7, AMER1 +92 more	Copy number gain	not specified	GPathogenic
Select item 3062468	GRCh37/hg19 Xq13.1-22.1(chrX:68040342-100863081)	ABCB7, APOOL +121 more	Copy number gain	not specified	GPathogenic
Select item 3024654	GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3	GPC4, TAF9B +488 more	Copy number gain	not provided	GPathogenic
Select item 2663780	NC_000023.11:g.(?_66445907)_(78172208_?)dup	KIF4A, LOC130068402 +206 more	Duplication	Xq13q21 duplication	GPathogenic
Select item 2660905	NM_001013627.3(NHSL2):c.3657C>T (p.Thr1219=)	NHSL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2660904	NM_001013627.3(NHSL2):c.3246C>A (p.Thr1082=)	NHSL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2660903	NM_001013627.3(NHSL2):c.3085C>G (p.Pro1029Ala)	NHSL2 (P1029A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2660902	NM_001013627.3(NHSL2):c.2774G>A (p.Arg925Gln)	NHSL2 (R925Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2660901	NM_001013627.3(NHSL2):c.2646A>C (p.Pro882=)	NHSL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2660900	NM_001013627.3(NHSL2):c.1056G>A (p.Pro352=)	NHSL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2660899	NM_001013627.3(NHSL2):c.651C>T (p.Ala217=)	NHSL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2660898	NM_001405151.1(RTL5):c.186C>G (p.Pro62=)	NHSL2, RTL5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2660897	NM_001405151.1(RTL5):c.754G>A (p.Gly252Ser)	NHSL2, RTL5 (G252S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2660896	NM_001405151.1(RTL5):c.1654C>T (p.Arg552Cys)	NHSL2, RTL5 (R552C)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2619697	NM_001405151.1(RTL5):c.412G>C (p.Glu138Gln)	NHSL2, RTL5 (E138Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2616192	NM_001405151.1(RTL5):c.449G>T (p.Arg150Leu)	NHSL2, RTL5 (R150L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2603165	NM_001405151.1(RTL5):c.796T>G (p.Ser266Ala)	NHSL2, RTL5 (S266A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2590470	NM_001405151.1(RTL5):c.1253G>T (p.Gly418Val)	NHSL2, RTL5 (G418V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2568457	NM_001013627.3(NHSL2):c.487C>T (p.Arg163Cys)	NHSL2 (R163C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545906	NM_001013627.3(NHSL2):c.2894A>G (p.Gln965Arg)	NHSL2 (Q965R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545475	NM_001013627.3(NHSL2):c.3139G>A (p.Ala1047Thr)	NHSL2 (A1047T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539980	NM_001013627.3(NHSL2):c.827C>T (p.Pro276Leu)	NHSL2 (P276L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538808	NM_001013627.3(NHSL2):c.2671G>A (p.Val891Ile)	NHSL2 (V891I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537765	NM_001405151.1(RTL5):c.724C>G (p.Arg242Gly)	NHSL2, RTL5 (R242G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2519832	NM_001013627.3(NHSL2):c.3109A>G (p.Ile1037Val)	NHSL2 (I1037V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516124	NM_001405151.1(RTL5):c.674G>C (p.Arg225Pro)	NHSL2, RTL5 (R225P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2511349	NM_001405151.1(RTL5):c.1429G>A (p.Ala477Thr)	NHSL2, RTL5 (A477T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2509084	NM_001013627.3(NHSL2):c.3435A>G (p.Ile1145Met)	NHSL2 (I1145M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2506546	GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074)	BMX, CXorf38 +821 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 2493146	NM_001013627.3(NHSL2):c.368C>T (p.Ser123Leu)	NHSL2 (S123L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488270	NM_001013627.3(NHSL2):c.2825C>T (p.Thr942Ile)	NHSL2 (T942I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480261	NM_001405151.1(RTL5):c.275C>A (p.Pro92Gln)	NHSL2, RTL5 (P92Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2479922	NM_001013627.3(NHSL2):c.245G>A (p.Arg82His)	NHSL2 (R82H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475793	NM_001013627.3(NHSL2):c.3671G>A (p.Ser1224Asn)	NHSL2 (S1224N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473328	NM_001013627.3(NHSL2):c.515C>A (p.Thr172Asn)	NHSL2 (T172N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473073	NM_001013627.3(NHSL2):c.191G>A (p.Arg64His)	NHSL2 (R64H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472434	NM_001013627.3(NHSL2):c.34C>T (p.Arg12Cys)	NHSL2 (R12C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468612	NM_001013627.3(NHSL2):c.1243G>C (p.Gly415Arg)	NHSL2 (G415R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460752	NM_001013627.3(NHSL2):c.3628A>C (p.Ile1210Leu)	NHSL2 (I1210L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457389	NM_001013627.3(NHSL2):c.3346G>C (p.Val1116Leu)	NHSL2 (V1116L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397186	NM_001013627.3(NHSL2):c.728C>T (p.Thr243Met)	NHSL2 (T243M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391511	NM_001013627.3(NHSL2):c.2871T>A (p.Asp957Glu)	NHSL2 (D957E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383072	NM_001013627.3(NHSL2):c.3494G>C (p.Ser1165Thr)	NHSL2 (S1165T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381227	NM_001013627.3(NHSL2):c.1892G>A (p.Ser631Asn)	NHSL2 (S631N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378285	NM_001013627.3(NHSL2):c.17G>T (p.Arg6Leu)	NHSL2 (R6L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371416	NM_001013627.3(NHSL2):c.3522C>A (p.Asp1174Glu)	NHSL2 (D1174E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367078	NM_001013627.3(NHSL2):c.2179T>G (p.Ser727Ala)	NHSL2 (S727A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354403	NM_001013627.3(NHSL2):c.2773C>T (p.Arg925Trp)	NHSL2 (R925W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353196	NM_001013627.3(NHSL2):c.1560G>T (p.Glu520Asp)	NHSL2 (E520D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350937	NM_001013627.3(NHSL2):c.1586C>T (p.Thr529Met)	NHSL2 (T529M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335866	NM_001013627.3(NHSL2):c.2635C>T (p.Arg879Trp)	NHSL2 (R879W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335851	NM_001013627.3(NHSL2):c.3661G>A (p.Asp1221Asn)	NHSL2 (D1221N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334029	NM_001013627.3(NHSL2):c.98C>G (p.Ala33Gly)	NHSL2 (A33G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330966	NM_001013627.3(NHSL2):c.1579G>A (p.Ala527Thr)	NHSL2 (A527T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328859	NM_001013627.3(NHSL2):c.488G>A (p.Arg163His)	NHSL2 (R163H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324669	NM_001013627.3(NHSL2):c.768G>T (p.Gln256His)	NHSL2 (Q256H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319689	NM_001013627.3(NHSL2):c.350T>C (p.Val117Ala)	NHSL2 (V117A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317116	NM_001013627.3(NHSL2):c.3010G>A (p.Val1004Ile)	NHSL2 (V1004I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305630	NM_001013627.3(NHSL2):c.1583G>A (p.Ser528Asn)	NHSL2 (S528N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298790	NM_001013627.3(NHSL2):c.1106G>A (p.Ser369Asn)	NHSL2 (S369N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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