DCHS2[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3048765	NM_001358235.2(DCHS2):c.10007C>T (p.Thr3336Met)	DCHS2 (T3336M)	Single nucleotide variant (missense variant)	DCHS2-related disorder	GLikely benign
Select item 3038824	NM_001358235.2(DCHS2):c.9890C>T (p.Pro3297Leu)	DCHS2 (P3297L)	Single nucleotide variant (missense variant)	DCHS2-related disorder	GBenign
Select item 3059022	NM_001358235.2(DCHS2):c.9597C>T (p.Asp3199=)	DCHS2	Single nucleotide variant (synonymous variant)	DCHS2-related disorder	GBenign
Select item 3049926	NM_001358235.2(DCHS2):c.9557C>T (p.Thr3186Ile)	DCHS2 (T3186I)	Single nucleotide variant (missense variant)	DCHS2-related disorder	GBenign
Select item 3042530	NM_001358235.2(DCHS2):c.9405C>T (p.Ile3135=)	DCHS2	Single nucleotide variant (synonymous variant)	DCHS2-related disorder	GBenign
Select item 3059159	NM_001358235.2(DCHS2):c.9392C>T (p.Pro3131Leu)	DCHS2 (P3131L)	Single nucleotide variant (missense variant)	DCHS2-related disorder	GBenign
Select item 3056142	NM_001358235.2(DCHS2):c.9262C>T (p.His3088Tyr)	DCHS2 (H3088Y)	Single nucleotide variant (missense variant)	DCHS2-related disorder	GBenign
Select item 3038479	NM_001358235.2(DCHS2):c.9206C>T (p.Pro3069Leu)	DCHS2 (P3069L)	Single nucleotide variant (missense variant)	DCHS2-related disorder	GLikely benign
Select item 3045678	NM_001358235.2(DCHS2):c.9130C>T (p.Arg3044Trp)	DCHS2 (R3044W)	Single nucleotide variant (missense variant)	DCHS2-related disorder	GLikely benign
Select item 3039222	NM_001358235.2(DCHS2):c.9054A>T (p.Arg3018Ser)	DCHS2 (R3018S)	Single nucleotide variant (missense variant)	DCHS2-related disorder	GBenign
Select item 3055622	NM_001358235.2(DCHS2):c.8929A>C (p.Asn2977His)	DCHS2 (N2977H)	Single nucleotide variant (missense variant)	DCHS2-related disorder	GBenign
Select item 3059711	NM_001358235.2(DCHS2):c.8789A>G (p.Lys2930Arg)	DCHS2 (K2930R)	Single nucleotide variant (missense variant)	DCHS2-related disorder	GBenign
Select item 3038678	NM_001358235.2(DCHS2):c.8644C>A (p.Gln2882Lys)	DCHS2 (Q2882K)	Single nucleotide variant (missense variant)	DCHS2-related disorder	GBenign
Select item 3041244	NM_001358235.2(DCHS2):c.8400G>A (p.Pro2800=)	DCHS2	Single nucleotide variant (synonymous variant)	DCHS2-related disorder	GBenign
Select item 3055607	NM_001358235.2(DCHS2):c.8273G>A (p.Ser2758Asn)	DCHS2 (S2758N)	Single nucleotide variant (missense variant)	DCHS2-related disorder	GBenign
Select item 3050011	NM_001358235.2(DCHS2):c.8074C>T (p.Arg2692Cys)	DCHS2 (R2692C)	Single nucleotide variant (missense variant)	DCHS2-related disorder	GBenign
Select item 3038093	NM_001358235.2(DCHS2):c.7933T>C (p.Leu2645=)	DCHS2	Single nucleotide variant (synonymous variant)	DCHS2-related disorder	GBenign
Select item 3040192	NM_001358235.2(DCHS2):c.7851T>C (p.Leu2617=)	DCHS2	Single nucleotide variant (synonymous variant)	DCHS2-related disorder	GBenign
Select item 3039356	NM_001358235.2(DCHS2):c.7843G>A (p.Gly2615Ser)	DCHS2 (G2615S)	Single nucleotide variant (missense variant)	DCHS2-related disorder	GBenign
Select item 3037446	NM_001358235.2(DCHS2):c.7714T>G (p.Ser2572Ala)	DCHS2 (S2572A)	Single nucleotide variant (missense variant)	DCHS2-related disorder	GBenign
Select item 3037966	NM_001358235.2(DCHS2):c.7520T>G (p.Leu2507Ter)	DCHS2 (L2507*)	Single nucleotide variant (nonsense)	DCHS2-related disorder	GLikely benign
Select item 3037473	NM_001358235.2(DCHS2):c.7389dup (p.Tyr2464fs)	DCHS2 (Y2464fs)	Duplication (frameshift variant)	DCHS2-related disorder	GBenign
Select item 3037562	NM_001358235.2(DCHS2):c.7385T>C (p.Val2462Ala)	DCHS2 (V2462A)	Single nucleotide variant (missense variant)	DCHS2-related disorder	GBenign
Select item 3039121	NM_001358235.2(DCHS2):c.7161T>C (p.Ser2387=)	DCHS2	Single nucleotide variant (synonymous variant)	DCHS2-related disorder	GBenign
Select item 3037465	NM_001358235.2(DCHS2):c.7072+8_7072+9del	DCHS2	Microsatellite (intron variant)	DCHS2-related disorder	GBenign
Select item 3039018	NM_001358235.2(DCHS2):c.6822C>T (p.Asn2274=)	DCHS2	Single nucleotide variant (synonymous variant)	DCHS2-related disorder	GBenign
Select item 3042278	NM_001358235.2(DCHS2):c.6467C>T (p.Thr2156Ile)	DCHS2 (T2156I)	Single nucleotide variant (missense variant)	DCHS2-related disorder	GBenign
Select item 3043266	NM_001358235.2(DCHS2):c.6464-5T>C	DCHS2	Single nucleotide variant (intron variant)	DCHS2-related disorder	GLikely benign
Select item 3056954	NM_001358235.2(DCHS2):c.6148G>C (p.Glu2050Gln)	DCHS2 (E2050Q)	Single nucleotide variant (missense variant)	DCHS2-related disorder	GBenign
Select item 3055953	NM_001358235.2(DCHS2):c.6148G>A (p.Glu2050Lys)	DCHS2 (E2050K)	Single nucleotide variant (missense variant)	DCHS2-related disorder	GBenign
Select item 3056762	NM_001358235.2(DCHS2):c.6105T>C (p.Asp2035=)	DCHS2	Single nucleotide variant (synonymous variant)	DCHS2-related disorder	GBenign
Select item 3055560	NM_001358235.2(DCHS2):c.6093T>C (p.Val2031=)	DCHS2	Single nucleotide variant (synonymous variant)	DCHS2-related disorder	GBenign
Select item 3056527	NM_001358235.2(DCHS2):c.6084C>G (p.Val2028=)	DCHS2	Single nucleotide variant (synonymous variant)	DCHS2-related disorder	GBenign
Select item 3037913	NM_001358235.2(DCHS2):c.5926G>T (p.Ala1976Ser)	DCHS2 (A1976S)	Single nucleotide variant (missense variant)	DCHS2-related disorder	GLikely benign
Select item 3055695	NM_001358235.2(DCHS2):c.5917A>C (p.Thr1973Pro)	DCHS2 (T1973P)	Single nucleotide variant (missense variant)	DCHS2-related disorder	GBenign
Select item 3055901	NM_001358235.2(DCHS2):c.5804C>G (p.Thr1935Arg)	DCHS2 (T1935R)	Single nucleotide variant (missense variant)	DCHS2-related disorder	GBenign
Select item 3033908	NM_001358235.2(DCHS2):c.5678G>T (p.Arg1893Leu)	DCHS2 (R1893L)	Single nucleotide variant (missense variant)	DCHS2-related disorder	GBenign
Select item 3038477	NM_001358235.2(DCHS2):c.5475C>T (p.His1825=)	DCHS2	Single nucleotide variant (synonymous variant)	DCHS2-related disorder	GBenign
Select item 3035164	NM_001358235.2(DCHS2):c.5405G>A (p.Arg1802Gln)	DCHS2 (R1802Q)	Single nucleotide variant (missense variant)	DCHS2-related disorder	GBenign
Select item 3040191	NM_001358235.2(DCHS2):c.5020+9C>T	DCHS2	Single nucleotide variant (intron variant)	DCHS2-related disorder	GLikely benign
Select item 3040740	NM_001358235.2(DCHS2):c.5020+8G>T	DCHS2	Single nucleotide variant (intron variant)	DCHS2-related disorder	GLikely benign
Select item 3059062	NM_001358235.2(DCHS2):c.4979C>T (p.Ser1660Leu)	DCHS2 (S1660L)	Single nucleotide variant (missense variant)	DCHS2-related disorder	GBenign
Select item 3041054	NM_001358235.2(DCHS2):c.4877C>T (p.Ala1626Val)	DCHS2 (A1626V)	Single nucleotide variant (missense variant)	DCHS2-related disorder	GBenign
Select item 3055439	NM_001358235.2(DCHS2):c.4816G>A (p.Ala1606Thr)	DCHS2 (A1606T)	Single nucleotide variant (missense variant)	DCHS2-related disorder	GBenign
Select item 2655138	NM_001358235.2(DCHS2):c.4614C>T (p.Asp1538=)	DCHS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3038274	NM_001358235.2(DCHS2):c.4540C>T (p.Leu1514Phe)	DCHS2 (L1514F)	Single nucleotide variant (missense variant)	DCHS2-related disorder	GBenign
Select item 161708	NM_001358235.2(DCHS2):c.4375G>A (p.Gly1459Arg)	DCHS2 (G1459R)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 3358184	NM_001358235.2(DCHS2):c.4190C>T (p.Ser1397Phe)	DCHS2 (S1397F)	Single nucleotide variant (missense variant)	DCHS2-related disorder	GUncertain significance
Select item 3059335	NM_001358235.2(DCHS2):c.4177-9G>A	DCHS2	Single nucleotide variant (intron variant)	DCHS2-related disorder	GBenign
Select item 3059795	NM_001358235.2(DCHS2):c.4086G>A (p.Ser1362=)	DCHS2	Single nucleotide variant (synonymous variant)	DCHS2-related disorder	GBenign
Select item 3039409	NM_001358235.2(DCHS2):c.4056T>C (p.Asn1352=)	DCHS2	Single nucleotide variant (synonymous variant)	DCHS2-related disorder	GBenign
Select item 3059604	NM_001358235.2(DCHS2):c.4055A>G (p.Asn1352Ser)	DCHS2 (N1352S)	Single nucleotide variant (missense variant)	DCHS2-related disorder	GBenign
Select item 3034489	NM_001358235.2(DCHS2):c.4047C>T (p.Asp1349=)	DCHS2	Single nucleotide variant (synonymous variant)	DCHS2-related disorder	GBenign
Select item 3059819	NM_001358235.2(DCHS2):c.4019-785CAAA[5]	DCHS2 (N1365fs)	Microsatellite (frameshift variant +2 more)	DCHS2-related disorder	GBenign
Select item 3056114	NM_001358235.2(DCHS2):c.4019-822G>A	DCHS2	Single nucleotide variant (synonymous variant +1 more)	DCHS2-related disorder	GBenign
Select item 2501772	NM_001358235.2(DCHS2):c.4019-835_4019-834insA	DCHS2 (M1343fs)	Insertion (frameshift variant +1 more)	Multiple congenital anomalies	GUncertain significance
Select item 3060434	NM_001358235.2(DCHS2):c.4019-835C>A	DCHS2 (P1342H)	Single nucleotide variant (missense variant +2 more)	DCHS2-related disorder	GBenign
Select item 3059718	NM_001358235.2(DCHS2):c.4019-847del	DCHS2	Deletion (intron variant)	DCHS2-related disorder	GBenign
Select item 3271070	NM_001358235.2(DCHS2):c.3988A>G (p.Asn1330Asp)	DCHS2 (N1330D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2655139	NM_001358235.2(DCHS2):c.3974C>T (p.Pro1325Leu)	DCHS2 (P1325L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3080484	NM_001358235.2(DCHS2):c.3919G>A (p.Val1307Ile)	DCHS2 (V1307I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3056348	NM_001358235.2(DCHS2):c.3892C>G (p.Leu1298Val)	DCHS2 (L1298V)	Single nucleotide variant (missense variant)	DCHS2-related disorder	GBenign
Select item 3271068	NM_001358235.2(DCHS2):c.3850G>A (p.Val1284Ile)	DCHS2 (V1284I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514105	NM_001358235.2(DCHS2):c.3845T>C (p.Val1282Ala)	DCHS2 (V1282A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3049809	NM_001358235.2(DCHS2):c.3844G>A (p.Val1282Ile)	DCHS2 (V1282I)	Single nucleotide variant (missense variant)	DCHS2-related disorder	GBenign
Select item 2602648	NM_001358235.2(DCHS2):c.3836C>T (p.Ala1279Val)	DCHS2 (A1279V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3080483	NM_001358235.2(DCHS2):c.3808G>A (p.Gly1270Ser)	DCHS2 (G1270S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3037221	NM_001358235.2(DCHS2):c.3807C>T (p.Arg1269=)	DCHS2	Single nucleotide variant (synonymous variant)	DCHS2-related disorder	GBenign
Select item 3080482	NM_001358235.2(DCHS2):c.3806G>T (p.Arg1269Leu)	DCHS2 (R1269L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080481	NM_001358235.2(DCHS2):c.3806G>A (p.Arg1269His)	DCHS2 (R1269H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2301535	NM_001358235.2(DCHS2):c.3805C>T (p.Arg1269Cys)	DCHS2 (R1269C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398469	NM_001358235.2(DCHS2):c.3790G>A (p.Val1264Met)	DCHS2 (V1264M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207781	NM_001358235.2(DCHS2):c.3748G>A (p.Val1250Met)	DCHS2 (V1250M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271063	NM_001358235.2(DCHS2):c.3730+890G>T	DCHS2	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 2225949	NM_001358235.2(DCHS2):c.3730+872C>T	DCHS2	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3039572	NM_001358235.2(DCHS2):c.3676C>T (p.Leu1226=)	DCHS2	Single nucleotide variant (synonymous variant)	DCHS2-related disorder	GBenign
Select item 3080480	NM_001358235.2(DCHS2):c.3601G>C (p.Glu1201Gln)	DCHS2 (E1201Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314380	NM_001358235.2(DCHS2):c.3601G>A (p.Glu1201Lys)	DCHS2 (E1201K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304713	NM_001358235.2(DCHS2):c.3550G>A (p.Glu1184Lys)	DCHS2 (E1184K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281766	NM_001358235.2(DCHS2):c.3532A>G (p.Ile1178Val)	DCHS2 (I1178V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304857	NM_001358235.2(DCHS2):c.3512A>C (p.Gln1171Pro)	DCHS2 (Q1171P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395074	NM_001358235.2(DCHS2):c.3479T>C (p.Val1160Ala)	DCHS2 (V1160A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514676	NM_001358235.2(DCHS2):c.3434G>T (p.Arg1145Leu)	DCHS2 (R1145L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080479	NM_001358235.2(DCHS2):c.3409C>T (p.Pro1137Ser)	DCHS2 (P1137S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218853	NM_001358235.2(DCHS2):c.3396G>A (p.Met1132Ile)	DCHS2 (M1132I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2548849	NM_001358235.2(DCHS2):c.3358C>G (p.Leu1120Val)	DCHS2 (L1120V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080478	NM_001358235.2(DCHS2):c.3356C>T (p.Pro1119Leu)	DCHS2 (P1119L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550748	NM_001358235.2(DCHS2):c.3329C>T (p.Pro1110Leu)	DCHS2 (P1110L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208496	NM_001358235.2(DCHS2):c.3326A>G (p.His1109Arg)	DCHS2 (H1109R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218852	NM_001358235.2(DCHS2):c.3309G>A (p.Met1103Ile)	DCHS2 (M1103I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3271064	NM_001358235.2(DCHS2):c.3308T>C (p.Met1103Thr)	DCHS2 (M1103T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611618	NM_001358235.2(DCHS2):c.3271G>A (p.Val1091Met)	DCHS2 (V1091M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366623	NM_001358235.2(DCHS2):c.3239C>T (p.Pro1080Leu)	DCHS2 (P1080L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080477	NM_001358235.2(DCHS2):c.3224A>C (p.Lys1075Thr)	DCHS2 (K1075T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279598	NM_001358235.2(DCHS2):c.3220G>C (p.Glu1074Gln)	DCHS2 (E1074Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271065	NM_001358235.2(DCHS2):c.3214G>A (p.Val1072Ile)	DCHS2 (V1072I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3051211	NM_001358235.2(DCHS2):c.3214G>T (p.Val1072Phe)	DCHS2 (V1072F)	Single nucleotide variant (missense variant)	DCHS2-related disorder	GLikely benign
Select item 3039585	NM_001358235.2(DCHS2):c.3205C>T (p.Leu1069=)	DCHS2	Single nucleotide variant (synonymous variant)	DCHS2-related disorder	GBenign
Select item 3039243	NM_001358235.2(DCHS2):c.3204G>A (p.Val1068=)	DCHS2	Single nucleotide variant (synonymous variant)	DCHS2-related disorder	GBenign
Select item 3080476	NM_001358235.2(DCHS2):c.3184C>A (p.Pro1062Thr)	DCHS2 (P1062T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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