Related gene-specific medical variations for Gene (Select 105377785) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3060738	NM_033225.6(CSMD1):c.10107A>T (p.Gln3369His)	CSMD1, LOC105377785 (Q3369H)	Single nucleotide variant (missense variant)	CSMD1-related condition	GBenign
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 condition	GLikely benign
Select item 3045826	NM_033225.6(CSMD1):c.10405C>G (p.Pro3469Ala)	CSMD1, LOC105377785 (P3469A)	Single nucleotide variant (missense variant)	CSMD1-related condition	GBenign
Select item 3044563	NM_033225.6(CSMD1):c.9723C>G (p.Phe3241Leu)	CSMD1, LOC105377785 (F3241L)	Single nucleotide variant (missense variant)	CSMD1-related condition	GLikely benign
Select item 3042953	NM_033225.6(CSMD1):c.10170C>T (p.Ser3390=)	CSMD1, LOC105377785	Single nucleotide variant (synonymous variant)	CSMD1-related condition	GLikely benign
Select item 3041774	NM_033225.6(CSMD1):c.9300G>A (p.Pro3100=)	CSMD1, LOC105377785	Single nucleotide variant (synonymous variant)	CSMD1-related condition	GLikely benign
Select item 3039975	NM_033225.6(CSMD1):c.10403-4A>G	CSMD1, LOC105377785	Single nucleotide variant (intron variant)	CSMD1-related condition	GLikely benign
Select item 3039755	NM_033225.6(CSMD1):c.9570C>T (p.Ser3190=)	CSMD1, LOC105377785	Single nucleotide variant (synonymous variant)	CSMD1-related condition	GLikely benign
Select item 3039728	NM_033225.6(CSMD1):c.9303G>A (p.Pro3101=)	CSMD1, LOC105377785	Single nucleotide variant (synonymous variant)	CSMD1-related condition	GBenign
Select item 3038258	NM_033225.6(CSMD1):c.10433G>A (p.Ser3478Asn)	CSMD1, LOC105377785 (S3478N)	Single nucleotide variant (missense variant)	CSMD1-related condition	GBenign
Select item 3035186	NM_033225.6(CSMD1):c.9739T>C (p.Tyr3247His)	CSMD1, LOC105377785 (Y3247H)	Single nucleotide variant (missense variant)	CSMD1-related condition	GUncertain significance
Select item 3031038	NM_033225.6(CSMD1):c.8594del (p.Pro2865fs)	CSMD1, LOC105377785 (P2865fs)	Deletion (frameshift variant)	CSMD1-related condition	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 2688887	NM_033225.6(CSMD1):c.10429T>A (p.Ser3477Thr)	CSMD1, LOC105377785 (S3477T)	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 2688882	NM_033225.6(CSMD1):c.9562G>C (p.Val3188Leu)	CSMD1, LOC105377785 (V3188L)	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 2688874	NM_033225.6(CSMD1):c.8282A>G (p.Asn2761Ser)	CSMD1, LOC105377785 (N2761S)	Single nucleotide variant (missense variant)	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	LOC105377785, CSMD1	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	LOC105377785, CSMD1	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=)	LOC105377785, CSMD1	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 condition	GUncertain significance
Select item 2637072	NM_033225.6(CSMD1):c.10607A>T (p.Asn3536Ile)	CSMD1, LOC105377785 (N3536I)	Single nucleotide variant (missense variant)	CSMD1-related condition	GUncertain significance
Select item 2632339	NM_033225.6(CSMD1):c.10314+1G>A	CSMD1, LOC105377785	Single nucleotide variant (splice donor variant)	CSMD1-related condition	GUncertain significance
Select item 2632211	NM_033225.6(CSMD1):c.8759G>T (p.Cys2920Phe)	CSMD1, LOC105377785 (C2920F)	Single nucleotide variant (missense variant)	CSMD1-related condition	GUncertain significance
Select item 2631512	NM_033225.6(CSMD1):c.9097A>C (p.Thr3033Pro)	CSMD1, LOC105377785 (T3033P)	Single nucleotide variant (missense variant)	CSMD1-related condition	GUncertain significance
Select item 2630700	NM_033225.6(CSMD1):c.9214_9219del (p.Val3072_Thr3073del)	CSMD1, LOC105377785	Deletion (inframe_deletion)	CSMD1-related condition	GUncertain significance
Select item 2630001	NM_033225.6(CSMD1):c.9181T>C (p.Tyr3061His)	CSMD1, LOC105377785 (Y3061H)	Single nucleotide variant (missense variant)	CSMD1-related condition	GUncertain significance
Select item 2609589	NM_033225.6(CSMD1):c.10558A>G (p.Asn3520Asp)	CSMD1, LOC105377785 (N3520D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2590057	NM_033225.6(CSMD1):c.9091G>A (p.Asp3031Asn)	CSMD1, LOC105377785 (D3031N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2547731	NM_033225.6(CSMD1):c.10189C>G (p.Leu3397Val)	CSMD1, LOC105377785 (L3397V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2541308	NM_033225.6(CSMD1):c.10422A>T (p.Gln3474His)	CSMD1, LOC105377785 (Q3474H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2528678	NM_033225.6(CSMD1):c.8270A>G (p.Asn2757Ser)	CSMD1, LOC105377785 (N2757S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2526029	NM_033225.6(CSMD1):c.10688T>A (p.Val3563Glu)	CSMD1, LOC105377785 (V3563E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2525702	NM_033225.6(CSMD1):c.10060G>A (p.Val3354Ile)	CSMD1, LOC105377785 (V3354I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2525115	NM_033225.6(CSMD1):c.9447G>T (p.Gln3149His)	CSMD1, LOC105377785 (Q3149H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2520904	NM_033225.6(CSMD1):c.9925G>A (p.Ala3309Thr)	CSMD1, LOC105377785 (A3309T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2515578	NM_033225.6(CSMD1):c.9592G>C (p.Asp3198His)	CSMD1, LOC105377785 (D3198H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2509664	NM_033225.6(CSMD1):c.10541G>C (p.Arg3514Thr)	CSMD1, LOC105377785 (R3514T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2507520	NM_033225.6(CSMD1):c.8524A>G (p.Met2842Val)	CSMD1, LOC105377785 (M2842V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2492838	NM_033225.6(CSMD1):c.10442A>T (p.His3481Leu)	CSMD1, LOC105377785 (H3481L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2482368	NM_033225.6(CSMD1):c.9605G>A (p.Ser3202Asn)	CSMD1, LOC105377785 (S3202N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2404378	NM_033225.6(CSMD1):c.9244G>C (p.Asp3082His)	CSMD1, LOC105377785 (D3082H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2396679	NM_033225.6(CSMD1):c.10581C>G (p.Asn3527Lys)	LOC105377785, CSMD1 (N3527K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2392834	NM_033225.6(CSMD1):c.9260C>T (p.Pro3087Leu)	LOC105377785, CSMD1 (P3087L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2385027	NM_033225.6(CSMD1):c.9494G>T (p.Arg3165Leu)	LOC105377785, CSMD1 (R3165L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2373675	NM_033225.6(CSMD1):c.8432A>T (p.Gln2811Leu)	LOC105377785, CSMD1 (Q2811L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2372172	NM_033225.6(CSMD1):c.8297C>T (p.Thr2766Met)	LOC105377785, CSMD1 (T2766M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2366656	NM_033225.6(CSMD1):c.9286C>G (p.Leu3096Val)	CSMD1, LOC105377785 (L3096V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2365546	NM_033225.6(CSMD1):c.8683G>T (p.Asp2895Tyr)	LOC105377785, CSMD1 (D2895Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2344990	NM_033225.6(CSMD1):c.8042G>A (p.Gly2681Asp)	CSMD1, LOC105377785 (G2681D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2340662	NM_033225.6(CSMD1):c.7862C>T (p.Ser2621Leu)	LOC105377785, CSMD1 (S2621L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2337959	NM_033225.6(CSMD1):c.8665G>A (p.Glu2889Lys)	LOC105377785, CSMD1 (E2889K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2336287	NM_033225.6(CSMD1):c.8437T>C (p.Phe2813Leu)	LOC105377785, CSMD1 (F2813L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2327006	NM_033225.6(CSMD1):c.9629A>G (p.Asp3210Gly)	LOC105377785, CSMD1 (D3210G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2320525	NM_033225.6(CSMD1):c.9539A>T (p.Gln3180Leu)	CSMD1, LOC105377785 (Q3180L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2300885	NM_033225.6(CSMD1):c.8662A>G (p.Ser2888Gly)	LOC105377785, CSMD1 (S2888G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2299479	NM_033225.6(CSMD1):c.8608C>G (p.Leu2870Val)	LOC105377785, CSMD1 (L2870V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2296291	NM_033225.6(CSMD1):c.9045G>C (p.Met3015Ile)	CSMD1, LOC105377785 (M3015I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2268107	NM_033225.6(CSMD1):c.9850G>A (p.Ala3284Thr)	CSMD1, LOC105377785 (A3284T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2265346	NM_033225.6(CSMD1):c.8567C>G (p.Ala2856Gly)	CSMD1, LOC105377785 (A2856G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2263562	NM_033225.6(CSMD1):c.9901A>T (p.Thr3301Ser)	LOC105377785, CSMD1 (T3301S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2262675	NM_033225.6(CSMD1):c.9243A>C (p.Lys3081Asn)	LOC105377785, CSMD1 (K3081N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2254816	NM_033225.6(CSMD1):c.9141C>G (p.Ile3047Met)	CSMD1, LOC105377785 (I3047M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2250739	NM_033225.6(CSMD1):c.8434A>T (p.Asn2812Tyr)	LOC105377785, CSMD1 (N2812Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2246053	NM_033225.6(CSMD1):c.9268C>A (p.Pro3090Thr)	CSMD1, LOC105377785 (P3090T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2236521	NM_033225.6(CSMD1):c.10594G>A (p.Ala3532Thr)	CSMD1, LOC105377785 (A3532T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2226374	NM_033225.6(CSMD1):c.8440C>T (p.Pro2814Ser)	LOC105377785, CSMD1 (P2814S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2215984	NM_033225.6(CSMD1):c.10358A>G (p.Asp3453Gly)	CSMD1, LOC105377785 (D3453G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1695221	NM_033225.6(CSMD1):c.8740+5G>A	CSMD1, LOC105377785	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1276961	NM_033225.6(CSMD1):c.10536-11G>A	CSMD1, LOC105377785	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1176258	NM_033225.6(CSMD1):c.8566+7C>T	CSMD1, LOC105377785	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 870705	NM_033225.6(CSMD1):c.9863C>T (p.Ala3288Val)	CSMD1, LOC105377785 (A3288V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 799854	NM_033225.6(CSMD1):c.10338A>G (p.Gly3446=)	LOC105377785, CSMD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 789597	NM_033225.6(CSMD1):c.8727G>T (p.Leu2909=)	CSMD1, LOC105377785	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 789596	NM_033225.6(CSMD1):c.8730C>G (p.Pro2910=)	CSMD1, LOC105377785	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 787056	NM_033225.6(CSMD1):c.8415C>T (p.Ala2805=)	CSMD1, LOC105377785	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 769338	NM_033225.6(CSMD1):c.8250T>C (p.Asn2750=)	CSMD1, LOC105377785	Single nucleotide variant (synonymous variant)	CSMD1-related condition +1 more	GBenign/Likely benign
Select item 734131	NM_033225.6(CSMD1):c.9532T>G (p.Phe3178Val)	CSMD1, LOC105377785 (F3178V)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 729682	NM_033225.6(CSMD1):c.10179G>A (p.Ser3393=)	CSMD1, LOC105377785	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 729164	NM_033225.6(CSMD1):c.8148C>T (p.Ser2716=)	CSMD1, LOC105377785	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 729163	NM_033225.6(CSMD1):c.9981G>A (p.Ser3327=)	CSMD1, LOC105377785	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 726079	NM_033225.6(CSMD1):c.9251G>C (p.Arg3084Thr)	CSMD1, LOC105377785 (R3084T)	Single nucleotide variant (missense variant)	CSMD1-related condition +1 more	GLikely benign
Select item 724978	NM_033225.6(CSMD1):c.8946C>G (p.Gly2982=)	CSMD1, LOC105377785	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 722436	NM_033225.6(CSMD1):c.8567-9T>C	CSMD1, LOC105377785	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 722092	NM_033225.6(CSMD1):c.8566+9G>C	CSMD1, LOC105377785	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 721279	NM_033225.6(CSMD1):c.8935G>A (p.Gly2979Ser)	CSMD1, LOC105377785 (G2979S)	Single nucleotide variant (missense variant)	CSMD1-related condition +1 more	GBenign/Likely benign
Select item 718625	NM_033225.6(CSMD1):c.9540G>A (p.Gln3180=)	CSMD1, LOC105377785	Single nucleotide variant (synonymous variant)	not provided	GBenign

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