ClinVar for Gene (Select 54798) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3349868	NM_001358235.2(DCHS2):c.2404A>G (p.Ile802Val)	DCHS2 (I802V)	Single nucleotide variant (missense variant)	DCHS2-related disorder	GUncertain significance
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 3271068	NM_001358235.2(DCHS2):c.3850G>A (p.Val1284Ile)	DCHS2 (V1284I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271067	NM_001358235.2(DCHS2):c.2992T>A (p.Leu998Met)	DCHS2 (L998M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271066	NM_001358235.2(DCHS2):c.2194A>G (p.Arg732Gly)	DCHS2 (R732G)	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 3271064	NM_001358235.2(DCHS2):c.3308T>C (p.Met1103Thr)	DCHS2 (M1103T)	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 3235952	GRCh38/hg38 4q31.3-32.1(chr4:153986026-156952467)	ASIC5, CTSO +45 more	Copy number loss	not provided	GUncertain significance
Select item 3080491	NM_001358235.2(DCHS2):c.2476+8901A>C	DCHS2	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3080490	NM_001358235.2(DCHS2):c.2423A>T (p.Tyr808Phe)	DCHS2 (Y808F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080489	NM_001358235.2(DCHS2):c.2276T>C (p.Val759Ala)	DCHS2 (V759A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080488	NM_001358235.2(DCHS2):c.2264C>G (p.Ala755Gly)	DCHS2 (A755G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080487	NM_001358235.2(DCHS2):c.2244+3317A>T	DCHS2	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3080486	NM_001358235.2(DCHS2):c.2053-13814G>A	DCHS2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3080485	NM_001358235.2(DCHS2):c.2154C>A (p.Asp718Glu)	DCHS2 (D718E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3080483	NM_001358235.2(DCHS2):c.3808G>A (p.Gly1270Ser)	DCHS2 (G1270S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3080480	NM_001358235.2(DCHS2):c.3601G>C (p.Glu1201Gln)	DCHS2 (E1201Q)	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 3080478	NM_001358235.2(DCHS2):c.3356C>T (p.Pro1119Leu)	DCHS2 (P1119L)	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 3080476	NM_001358235.2(DCHS2):c.3184C>A (p.Pro1062Thr)	DCHS2 (P1062T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080475	NM_001358235.2(DCHS2):c.3183T>A (p.His1061Gln)	DCHS2 (H1061Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080474	NM_001358235.2(DCHS2):c.3125G>C (p.Gly1042Ala)	DCHS2 (G1042A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080473	NM_001358235.2(DCHS2):c.2810C>G (p.Pro937Arg)	DCHS2 (P937R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080472	NM_001358235.2(DCHS2):c.2762G>T (p.Gly921Val)	DCHS2 (G921V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080471	NM_001358235.2(DCHS2):c.2657A>T (p.Tyr886Phe)	DCHS2 (Y886F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080470	NM_001358235.2(DCHS2):c.2653G>C (p.Val885Leu)	DCHS2 (V885L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062804	GRCh37/hg19 4q27-35.2(chr4:123399154-190957473)x3	FAT1, FAT4 +197 more	Copy number gain	not specified	GPathogenic
Select item 3062767	GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3	AADAT, ABCE1 +286 more	Copy number gain	not specified	GPathogenic
Select item 3060776	NM_001358235.2(DCHS2):c.2556T>C (p.Gly852=)	DCHS2	Single nucleotide variant (synonymous variant)	DCHS2-related disorder	GBenign
Select item 3060747	NM_001358235.2(DCHS2):c.1599T>C (p.Asn533=)	DCHS2	Single nucleotide variant (synonymous variant)	DCHS2-related disorder	GBenign
Select item 3060662	NM_001358235.2(DCHS2):c.2244+3329T>C	DCHS2	Single nucleotide variant (intron variant)	DCHS2-related disorder	GBenign
Select item 3060622	NM_001358235.2(DCHS2):c.1841C>T (p.Ala614Val)	DCHS2 (A614V)	Single nucleotide variant (missense variant)	DCHS2-related disorder	GBenign
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 3060408	NM_001358235.2(DCHS2):c.44G>A (p.Arg15Gln)	DCHS2 (R15Q)	Single nucleotide variant (missense variant +1 more)	DCHS2-related disorder	GBenign
Select item 3060338	NM_001358235.2(DCHS2):c.2477-8381C>T	DCHS2	Single nucleotide variant (intron variant)	DCHS2-related disorder	GBenign
Select item 3060273	NM_001358235.2(DCHS2):c.569T>G (p.Val190Gly)	DCHS2 (V190G)	Single nucleotide variant (missense variant +1 more)	DCHS2-related disorder	GBenign
Select item 3060155	NM_001358235.2(DCHS2):c.1443A>G (p.Leu481=)	DCHS2	Single nucleotide variant (synonymous variant)	DCHS2-related disorder	GBenign
Select item 3060034	NM_001358235.2(DCHS2):c.2053-13815C>T	DCHS2	Single nucleotide variant (intron variant)	DCHS2-related disorder	GBenign
Select item 3059984	NM_001358235.2(DCHS2):c.2303A>G (p.His768Arg)	DCHS2 (H768R)	Single nucleotide variant (missense 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 3059795	NM_001358235.2(DCHS2):c.4086G>A (p.Ser1362=)	DCHS2	Single nucleotide variant (synonymous variant)	DCHS2-related disorder	GBenign
Select item 3059784	NM_001358235.2(DCHS2):c.1777C>G (p.Gln593Glu)	DCHS2 (Q593E)	Single nucleotide variant (missense variant)	DCHS2-related disorder	GBenign
Select item 3059772	NM_001358235.2(DCHS2):c.2528C>T (p.Ser843Leu)	DCHS2 (S843L)	Single nucleotide variant (missense variant +1 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 3059711	NM_001358235.2(DCHS2):c.8789A>G (p.Lys2930Arg)	DCHS2 (K2930R)	Single nucleotide variant (missense 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 3059342	NM_001358235.2(DCHS2):c.1404T>G (p.Ser468=)	DCHS2	Single nucleotide variant (synonymous variant)	DCHS2-related disorder	GBenign
Select item 3059335	NM_001358235.2(DCHS2):c.4177-9G>A	DCHS2	Single nucleotide variant (intron variant)	DCHS2-related disorder	GBenign
Select item 3059312	NM_001358235.2(DCHS2):c.859C>T (p.Leu287=)	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 3059143	NM_001358235.2(DCHS2):c.625C>T (p.Pro209Ser)	DCHS2 (P209S)	Single nucleotide variant (missense variant)	DCHS2-related disorder	GBenign
Select item 3059101	NM_001358235.2(DCHS2):c.1686C>T (p.Ser562=)	DCHS2	Single nucleotide variant (synonymous variant)	DCHS2-related disorder	GBenign
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 3059022	NM_001358235.2(DCHS2):c.9597C>T (p.Asp3199=)	DCHS2	Single nucleotide variant (synonymous variant)	DCHS2-related disorder	GBenign
Select item 3058899	NM_001358235.2(DCHS2):c.1858A>G (p.Thr620Ala)	DCHS2 (T620A)	Single nucleotide variant (missense variant)	DCHS2-related disorder	GBenign
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 3056762	NM_001358235.2(DCHS2):c.6105T>C (p.Asp2035=)	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 3056348	NM_001358235.2(DCHS2):c.3892C>G (p.Leu1298Val)	DCHS2 (L1298V)	Single nucleotide variant (missense variant)	DCHS2-related disorder	GBenign
Select item 3056183	NM_001358235.2(DCHS2):c.1582C>T (p.Arg528Trp)	DCHS2 (R528W)	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 3056114	NM_001358235.2(DCHS2):c.4019-822G>A	DCHS2	Single nucleotide variant (synonymous variant +1 more)	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 3055901	NM_001358235.2(DCHS2):c.5804C>G (p.Thr1935Arg)	DCHS2 (T1935R)	Single nucleotide variant (missense variant)	DCHS2-related disorder	GBenign
Select item 3055761	NM_001358235.2(DCHS2):c.2848G>T (p.Val950Leu)	DCHS2 (V950L)	Single nucleotide variant (missense variant)	DCHS2-related disorder	GBenign
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 3055622	NM_001358235.2(DCHS2):c.8929A>C (p.Asn2977His)	DCHS2 (N2977H)	Single nucleotide variant (missense 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 3055560	NM_001358235.2(DCHS2):c.6093T>C (p.Val2031=)	DCHS2	Single nucleotide variant (synonymous 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 3053392	NM_001358235.2(DCHS2):c.951C>T (p.Arg317=)	DCHS2	Single nucleotide variant (synonymous variant)	DCHS2-related disorder	GLikely benign
Select item 3052961	NM_001358235.2(DCHS2):c.510C>G (p.Asp170Glu)	DCHS2 (D170E)	Single nucleotide variant (missense variant)	DCHS2-related disorder	GLikely benign
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 3050812	NM_001358235.2(DCHS2):c.2932G>A (p.Ala978Thr)	DCHS2 (A978T)	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 3049926	NM_001358235.2(DCHS2):c.9557C>T (p.Thr3186Ile)	DCHS2 (T3186I)	Single nucleotide variant (missense variant)	DCHS2-related disorder	GBenign
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 3048765	NM_001358235.2(DCHS2):c.10007C>T (p.Thr3336Met)	DCHS2 (T3336M)	Single nucleotide variant (missense variant)	DCHS2-related disorder	GLikely benign
Select item 3046853	NM_001358235.2(DCHS2):c.2608A>G (p.Thr870Ala)	DCHS2 (T870A)	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 3044703	NM_001358235.2(DCHS2):c.687G>A (p.Gly229=)	DCHS2	Single nucleotide variant (synonymous variant)	DCHS2-related disorder	GBenign
Select item 3044018	NM_001358235.2(DCHS2):c.1058C>A (p.Ala353Glu)	DCHS2 (A353E)	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 3043167	NM_001358235.2(DCHS2):c.2053-13755G>A	DCHS2	Single nucleotide variant (intron variant)	DCHS2-related disorder	GLikely benign
Select item 3042587	NM_001358235.2(DCHS2):c.496C>G (p.Arg166Gly)	DCHS2 (R166G)	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 3042306	NM_001358235.2(DCHS2):c.78C>T (p.Pro26=)	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 3042014	NM_001358235.2(DCHS2):c.1188G>A (p.Thr396=)	DCHS2	Single nucleotide variant (synonymous variant)	DCHS2-related disorder	GBenign
Select item 3041367	NM_001358235.2(DCHS2):c.1026G>T (p.Gly342=)	DCHS2	Single nucleotide variant (synonymous 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 3041140	NM_001358235.2(DCHS2):c.795G>A (p.Gln265=)	DCHS2	Single nucleotide variant (synonymous variant)	DCHS2-related disorder	GLikely benign
Select item 3041088	NM_001358235.2(DCHS2):c.2854G>A (p.Ala952Thr)	DCHS2 (A952T)	Single nucleotide variant (missense variant)	DCHS2-related disorder	GUncertain significance
Select item 3041054	NM_001358235.2(DCHS2):c.4877C>T (p.Ala1626Val)	DCHS2 (A1626V)	Single nucleotide variant (missense variant)	DCHS2-related disorder	GBenign

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