Related gene-specific medical variations for Gene (Select 64478) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3269827	NM_033225.6(CSMD1):c.10374C>G (p.Asp3458Glu)	CSMD1, LOC105377785 (D3458E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269826	NM_033225.6(CSMD1):c.9238A>G (p.Thr3080Ala)	CSMD1, LOC105377785 (T3080A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269822	NM_033225.6(CSMD1):c.8165A>T (p.Gln2722Leu)	CSMD1, LOC105377785 (Q2722L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3269820	NM_033225.6(CSMD1):c.10424A>G (p.Asp3475Gly)	CSMD1, LOC105377785 (D3475G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269815	NM_033225.6(CSMD1):c.1350C>G (p.Ile450Met)	CSMD1, LOC126860287 (I450M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269813	NM_033225.6(CSMD1):c.9497T>A (p.Leu3166His)	LOC105377785, CSMD1 (L3166H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269801	NM_033225.6(CSMD1):c.10444G>A (p.Gly3482Ser)	CSMD1, LOC105377785 (G3482S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269800	NM_033225.6(CSMD1):c.8035C>T (p.His2679Tyr)	CSMD1, LOC105377785 (H2679Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269795	NM_033225.6(CSMD1):c.10480G>C (p.Val3494Leu)	CSMD1, LOC105377785 (V3494L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269792	NM_033225.6(CSMD1):c.8641G>A (p.Val2881Met)	CSMD1, LOC105377785 (V2881M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269791	NM_033225.6(CSMD1):c.8822T>A (p.Leu2941His)	CSMD1, LOC105377785 (L2941H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269789	NM_033225.6(CSMD1):c.7994A>G (p.Asn2665Ser)	CSMD1, LOC105377785 (N2665S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269783	NM_033225.6(CSMD1):c.8314G>A (p.Gly2772Ser)	CSMD1, LOC105377785 (G2772S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269781	NM_033225.6(CSMD1):c.9044T>C (p.Met3015Thr)	CSMD1, LOC105377785 (M3015T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3078150	NM_033225.6(CSMD1):c.9776C>A (p.Ala3259Asp)	CSMD1, LOC105377785 (A3259D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078149	NM_033225.6(CSMD1):c.9638A>G (p.His3213Arg)	CSMD1, LOC105377785 (H3213R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078148	NM_033225.6(CSMD1):c.9518A>G (p.Tyr3173Cys)	CSMD1, LOC105377785 (Y3173C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078147	NM_033225.6(CSMD1):c.9265A>C (p.Lys3089Gln)	CSMD1, LOC105377785 (K3089Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078146	NM_033225.6(CSMD1):c.9241A>G (p.Lys3081Glu)	CSMD1, LOC105377785 (K3081E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078144	NM_033225.6(CSMD1):c.8954C>T (p.Thr2985Ile)	CSMD1, LOC105377785 (T2985I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078143	NM_033225.6(CSMD1):c.8818A>T (p.Ser2940Cys)	CSMD1, LOC105377785 (S2940C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078142	NM_033225.6(CSMD1):c.8571A>G (p.Ile2857Met)	CSMD1, LOC105377785 (I2857M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078141	NM_033225.6(CSMD1):c.8443G>C (p.Glu2815Gln)	LOC105377785, CSMD1 (E2815Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078140	NM_033225.6(CSMD1):c.8153G>A (p.Arg2718Lys)	CSMD1, LOC105377785 (R2718K)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3078139	NM_033225.6(CSMD1):c.8137G>T (p.Val2713Leu)	CSMD1, LOC105377785 (V2713L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3078138	NM_033225.6(CSMD1):c.8057T>C (p.Ile2686Thr)	CSMD1, LOC105377785 (I2686T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078068	NM_033225.6(CSMD1):c.1382G>A (p.Arg461Gln)	CSMD1, LOC126860287 (R461Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078064	NM_033225.6(CSMD1):c.10649C>G (p.Ala3550Gly)	CSMD1, LOC105377785 (A3550G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078063	NM_033225.6(CSMD1):c.10531C>A (p.His3511Asn)	CSMD1, LOC105377785 (H3511N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078062	NM_033225.6(CSMD1):c.10363C>A (p.His3455Asn)	CSMD1, LOC105377785 (H3455N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078061	NM_033225.6(CSMD1):c.10331A>G (p.Glu3444Gly)	CSMD1, LOC105377785 (E3444G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078060	NM_033225.6(CSMD1):c.10294A>T (p.Asn3432Tyr)	CSMD1, LOC105377785 (N3432Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078059	NM_033225.6(CSMD1):c.10204A>G (p.Ile3402Val)	CSMD1, LOC105377785 (I3402V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3078058	NM_033225.6(CSMD1):c.10170C>G (p.Ser3390Arg)	CSMD1, LOC105377785 (S3390R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078056	NM_033225.6(CSMD1):c.10082A>T (p.Tyr3361Phe)	CSMD1, LOC105377785 (Y3361F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063036	GRCh37/hg19 8p23.2(chr8:4709512-4859238)x1	CSMD1	Copy number loss	not specified	GUncertain significance
Select item 3060738	NM_033225.6(CSMD1):c.10107A>T (p.Gln3369His)	CSMD1, LOC105377785 (Q3369H)	Single nucleotide variant (missense variant)	CSMD1-related disorder	GBenign
Select item 3052396	NM_033225.6(CSMD1):c.1381C>A (p.Arg461=)	CSMD1, LOC126860287	Single nucleotide variant (synonymous variant)	CSMD1-related disorder	GLikely benign
Select item 3050128	NM_033225.6(CSMD1):c.8136T>C (p.Leu2712=)	CSMD1, LOC105377785	Single nucleotide variant (non-coding transcript variant +1 more)	CSMD1-related disorder	GLikely benign
Select item 3045826	NM_033225.6(CSMD1):c.10405C>G (p.Pro3469Ala)	CSMD1, LOC105377785 (P3469A)	Single nucleotide variant (missense variant)	CSMD1-related disorder	GBenign
Select item 3044563	NM_033225.6(CSMD1):c.9723C>G (p.Phe3241Leu)	CSMD1, LOC105377785 (F3241L)	Single nucleotide variant (missense variant)	CSMD1-related disorder	GLikely benign
Select item 3042953	NM_033225.6(CSMD1):c.10170C>T (p.Ser3390=)	CSMD1, LOC105377785	Single nucleotide variant (synonymous variant)	CSMD1-related disorder	GLikely benign
Select item 3041774	NM_033225.6(CSMD1):c.9300G>A (p.Pro3100=)	CSMD1, LOC105377785	Single nucleotide variant (synonymous variant)	CSMD1-related disorder	GLikely benign
Select item 3039975	NM_033225.6(CSMD1):c.10403-4A>G	CSMD1, LOC105377785	Single nucleotide variant (intron variant)	CSMD1-related disorder	GLikely benign
Select item 3039755	NM_033225.6(CSMD1):c.9570C>T (p.Ser3190=)	CSMD1, LOC105377785	Single nucleotide variant (synonymous variant)	CSMD1-related disorder	GLikely benign
Select item 3039728	NM_033225.6(CSMD1):c.9303G>A (p.Pro3101=)	LOC105377785, CSMD1	Single nucleotide variant (synonymous variant)	CSMD1-related disorder	GBenign
Select item 3038258	NM_033225.6(CSMD1):c.10433G>A (p.Ser3478Asn)	CSMD1, LOC105377785 (S3478N)	Single nucleotide variant (missense variant)	CSMD1-related disorder	GBenign
Select item 3035186	NM_033225.6(CSMD1):c.9739T>C (p.Tyr3247His)	CSMD1, LOC105377785 (Y3247H)	Single nucleotide variant (missense variant)	CSMD1-related disorder	GUncertain significance
Select item 3031038	NM_033225.6(CSMD1):c.8594del (p.Pro2865fs)	CSMD1, LOC105377785 (P2865fs)	Deletion (frameshift variant)	CSMD1-related disorder	GUncertain significance
Select item 2688892	NM_033225.6(CSMD1):c.2335A>C (p.Lys779Gln)	CSMD1 (K779Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2688891	NM_033225.6(CSMD1):c.10231C>G (p.Leu3411Val)	CSMD1, LOC105377785 (L3411V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2688890	NM_033225.6(CSMD1):c.10040-3C>A	CSMD1, LOC105377785	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2688889	NM_033225.6(CSMD1):c.2986G>A (p.Val996Ile)	CSMD1 (V996I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2688888	NM_033225.6(CSMD1):c.1916C>T (p.Ala639Val)	CSMD1 (A639V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2688887	NM_033225.6(CSMD1):c.10429T>A (p.Ser3477Thr)	CSMD1, LOC105377785 (S3477T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2688886	NM_033225.6(CSMD1):c.1681G>C (p.Gly561Arg)	CSMD1 (G561R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2688885	NM_033225.6(CSMD1):c.8807T>C (p.Phe2936Ser)	CSMD1, LOC105377785 (F2936S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2688884	NM_033225.6(CSMD1):c.2900-2A>C	CSMD1	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 2688883	NM_033225.6(CSMD1):c.536G>T (p.Gly179Val)	CSMD1 (G179V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2688882	NM_033225.6(CSMD1):c.9562G>C (p.Val3188Leu)	CSMD1, LOC105377785 (V3188L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2688881	NM_033225.6(CSMD1):c.2377G>C (p.Gly793Arg)	CSMD1 (G793R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2688880	NM_033225.6(CSMD1):c.1615A>C (p.Thr539Pro)	CSMD1 (T539P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2688879	NM_033225.6(CSMD1):c.9134A>G (p.Asn3045Ser)	CSMD1, LOC105377785 (N3045S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2688878	NM_033225.6(CSMD1):c.9466G>A (p.Gly3156Arg)	LOC105377785, CSMD1 (G3156R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2688877	NM_033225.6(CSMD1):c.6523C>T (p.Leu2175Phe)	CSMD1 (L2175F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2688876	NM_033225.6(CSMD1):c.6427G>A (p.Asp2143Asn)	CSMD1 (D2143N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2688875	NM_033225.6(CSMD1):c.5668C>G (p.Leu1890Val)	CSMD1 (L1890V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2688874	NM_033225.6(CSMD1):c.8282A>G (p.Asn2761Ser)	CSMD1, LOC105377785 (N2761S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2688872	NM_033225.6(CSMD1):c.6173A>T (p.His2058Leu)	CSMD1 (H2058L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2685294	GRCh37/hg19 8p23.2(chr8:4497742-4630806)x1	CSMD1	Copy number loss	not provided	GUncertain significance
Select item 2685293	GRCh37/hg19 8p23.2(chr8:4388614-4548121)x1	CSMD1	Copy number loss	not provided	GUncertain significance
Select item 2685292	GRCh37/hg19 8p23.2(chr8:3836835-4011218)x1	CSMD1	Copy number loss	not provided	GUncertain significance
Select item 2685291	GRCh37/hg19 8p23.2(chr8:2858453-4046658)x1	CSMD1	Copy number loss	not provided	GUncertain significance
Select item 2684519	GRCh37/hg19 8p23.2(chr8:2784418-4130320)x3	CSMD1	Copy number gain	not provided	GUncertain significance
Select item 2684518	GRCh37/hg19 8p23.2(chr8:2231762-3922120)x3	CSMD1	Copy number gain	not provided	GUncertain significance
Select item 2658325	NM_033225.6(CSMD1):c.7856-3714T>C	CSMD1, LOC105377785	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 2658324	NM_033225.6(CSMD1):c.7856-3626C>G	CSMD1, LOC105377785	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 2658323	NM_033225.6(CSMD1):c.7856-3586T>A	CSMD1, LOC105377785	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 2658322	NM_033225.6(CSMD1):c.7856-3370T>C	CSMD1, LOC105377785	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 2658321	NM_033225.6(CSMD1):c.7856-3216G>A	CSMD1, LOC105377785	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 2658320	NM_033225.6(CSMD1):c.7856-4C>T	CSMD1, LOC105377785	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2658319	NM_033225.6(CSMD1):c.8211A>T (p.Thr2737=)	CSMD1, LOC105377785	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2658318	NM_033225.6(CSMD1):c.9408C>A (p.Ser3136=)	CSMD1, LOC105377785	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2658317	NM_033225.6(CSMD1):c.9501T>C (p.Ser3167=)	CSMD1, LOC105377785	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2658316	NM_033225.6(CSMD1):c.10059C>T (p.Phe3353=)	CSMD1, LOC105377785	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2658315	NM_033225.6(CSMD1):c.10197G>A (p.Leu3399=)	CSMD1, LOC105377785	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2637321	NM_033225.6(CSMD1):c.9311A>G (p.Gln3104Arg)	CSMD1, LOC105377785 (Q3104R)	Single nucleotide variant (missense variant)	CSMD1-related disorder	GUncertain significance
Select item 2637072	NM_033225.6(CSMD1):c.10607A>T (p.Asn3536Ile)	CSMD1, LOC105377785 (N3536I)	Single nucleotide variant (missense variant)	CSMD1-related disorder	GUncertain significance
Select item 2632339	NM_033225.6(CSMD1):c.10314+1G>A	CSMD1, LOC105377785	Single nucleotide variant (splice donor variant)	CSMD1-related disorder	GUncertain significance
Select item 2632211	NM_033225.6(CSMD1):c.8759G>T (p.Cys2920Phe)	CSMD1, LOC105377785 (C2920F)	Single nucleotide variant (missense variant)	CSMD1-related disorder	GUncertain significance
Select item 2631512	NM_033225.6(CSMD1):c.9097A>C (p.Thr3033Pro)	CSMD1, LOC105377785 (T3033P)	Single nucleotide variant (missense variant)	CSMD1-related disorder	GUncertain significance
Select item 2630700	NM_033225.6(CSMD1):c.9214_9219del (p.Val3072_Thr3073del)	CSMD1, LOC105377785	Deletion (inframe_deletion)	CSMD1-related disorder	GUncertain significance
Select item 2630001	NM_033225.6(CSMD1):c.9181T>C (p.Tyr3061His)	CSMD1, LOC105377785 (Y3061H)	Single nucleotide variant (missense variant)	CSMD1-related disorder	GUncertain significance
Select item 2614670	NM_033225.6(CSMD1):c.1384G>A (p.Gly462Ser)	CSMD1, LOC126860287 (G462S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609589	NM_033225.6(CSMD1):c.10558A>G (p.Asn3520Asp)	CSMD1, LOC105377785 (N3520D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598848	NM_033225.6(CSMD1):c.1447G>A (p.Val483Met)	CSMD1, LOC126860287 (V483M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590057	NM_033225.6(CSMD1):c.9091G>A (p.Asp3031Asn)	CSMD1, LOC105377785 (D3031N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2571306	NM_033225.6(CSMD1):c.9843G>A (p.Pro3281=)	CSMD1, LOC105377785	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2566346	NM_033225.6(CSMD1):c.9233G>T (p.Arg3078Leu)	CSMD1, LOC105377785 (R3078L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547731	NM_033225.6(CSMD1):c.10189C>G (p.Leu3397Val)	CSMD1, LOC105377785 (L3397V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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