"Ambry Genetics"[submitter] AND "CSMD1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2526029	NM_033225.6(CSMD1):c.10688T>A (p.Val3563Glu)	CSMD1, LOC105377785 (V3563E)	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 2236521	NM_033225.6(CSMD1):c.10594G>A (p.Ala3532Thr)	CSMD1, LOC105377785 (A3532T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396679	NM_033225.6(CSMD1):c.10581C>G (p.Asn3527Lys)	CSMD1, LOC105377785 (N3527K)	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 2509664	NM_033225.6(CSMD1):c.10541G>C (p.Arg3514Thr)	CSMD1, LOC105377785 (R3514T)	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 3269795	NM_033225.6(CSMD1):c.10480G>C (p.Val3494Leu)	CSMD1, LOC105377785 (V3494L)	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 2492838	NM_033225.6(CSMD1):c.10442A>T (p.His3481Leu)	CSMD1, LOC105377785 (H3481L)	Single nucleotide variant (missense variant)	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 2541308	NM_033225.6(CSMD1):c.10422A>T (p.Gln3474His)	CSMD1, LOC105377785 (Q3474H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3078062	NM_033225.6(CSMD1):c.10363C>A (p.His3455Asn)	CSMD1, LOC105377785 (H3455N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215984	NM_033225.6(CSMD1):c.10358A>G (p.Asp3453Gly)	CSMD1, LOC105377785 (D3453G)	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 2547731	NM_033225.6(CSMD1):c.10189C>G (p.Leu3397Val)	CSMD1, LOC105377785 (L3397V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2525702	NM_033225.6(CSMD1):c.10060G>A (p.Val3354Ile)	CSMD1, LOC105377785 (V3354I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2520904	NM_033225.6(CSMD1):c.9925G>A (p.Ala3309Thr)	CSMD1, LOC105377785 (A3309T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263562	NM_033225.6(CSMD1):c.9901A>T (p.Thr3301Ser)	CSMD1, LOC105377785 (T3301S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268107	NM_033225.6(CSMD1):c.9850G>A (p.Ala3284Thr)	CSMD1, LOC105377785 (A3284T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2327006	NM_033225.6(CSMD1):c.9629A>G (p.Asp3210Gly)	CSMD1, LOC105377785 (D3210G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482368	NM_033225.6(CSMD1):c.9605G>A (p.Ser3202Asn)	CSMD1, LOC105377785 (S3202N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515578	NM_033225.6(CSMD1):c.9592G>C (p.Asp3198His)	CSMD1, LOC105377785 (D3198H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320525	NM_033225.6(CSMD1):c.9539A>T (p.Gln3180Leu)	CSMD1, LOC105377785 (Q3180L)	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 3269813	NM_033225.6(CSMD1):c.9497T>A (p.Leu3166His)	LOC105377785, CSMD1 (L3166H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385027	NM_033225.6(CSMD1):c.9494G>T (p.Arg3165Leu)	CSMD1, LOC105377785 (R3165L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525115	NM_033225.6(CSMD1):c.9447G>T (p.Gln3149His)	CSMD1, LOC105377785 (Q3149H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366656	NM_033225.6(CSMD1):c.9286C>G (p.Leu3096Val)	CSMD1, LOC105377785 (L3096V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246053	NM_033225.6(CSMD1):c.9268C>A (p.Pro3090Thr)	CSMD1, LOC105377785 (P3090T)	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 2392834	NM_033225.6(CSMD1):c.9260C>T (p.Pro3087Leu)	CSMD1, LOC105377785 (P3087L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404378	NM_033225.6(CSMD1):c.9244G>C (p.Asp3082His)	CSMD1, LOC105377785 (D3082H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262675	NM_033225.6(CSMD1):c.9243A>C (p.Lys3081Asn)	CSMD1, LOC105377785 (K3081N)	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 3269826	NM_033225.6(CSMD1):c.9238A>G (p.Thr3080Ala)	CSMD1, LOC105377785 (T3080A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2254816	NM_033225.6(CSMD1):c.9141C>G (p.Ile3047Met)	CSMD1, LOC105377785 (I3047M)	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 2296291	NM_033225.6(CSMD1):c.9045G>C (p.Met3015Ile)	CSMD1, LOC105377785 (M3015I)	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 3078144	NM_033225.6(CSMD1):c.8954C>T (p.Thr2985Ile)	CSMD1, LOC105377785 (T2985I)	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 3078143	NM_033225.6(CSMD1):c.8818A>T (p.Ser2940Cys)	CSMD1, LOC105377785 (S2940C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365546	NM_033225.6(CSMD1):c.8683G>T (p.Asp2895Tyr)	CSMD1, LOC105377785 (D2895Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337959	NM_033225.6(CSMD1):c.8665G>A (p.Glu2889Lys)	CSMD1, LOC105377785 (E2889K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300885	NM_033225.6(CSMD1):c.8662A>G (p.Ser2888Gly)	CSMD1, LOC105377785 (S2888G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 2299479	NM_033225.6(CSMD1):c.8608C>G (p.Leu2870Val)	CSMD1, LOC105377785 (L2870V)	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 2265346	NM_033225.6(CSMD1):c.8567C>G (p.Ala2856Gly)	CSMD1, LOC105377785 (A2856G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507520	NM_033225.6(CSMD1):c.8524A>G (p.Met2842Val)	CSMD1, LOC105377785 (M2842V)	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 2226374	NM_033225.6(CSMD1):c.8440C>T (p.Pro2814Ser)	CSMD1, LOC105377785 (P2814S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336287	NM_033225.6(CSMD1):c.8437T>C (p.Phe2813Leu)	CSMD1, LOC105377785 (F2813L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250739	NM_033225.6(CSMD1):c.8434A>T (p.Asn2812Tyr)	CSMD1, LOC105377785 (N2812Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373675	NM_033225.6(CSMD1):c.8432A>T (p.Gln2811Leu)	CSMD1, LOC105377785 (Q2811L)	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 2372172	NM_033225.6(CSMD1):c.8297C>T (p.Thr2766Met)	CSMD1, LOC105377785 (T2766M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528678	NM_033225.6(CSMD1):c.8270A>G (p.Asn2757Ser)	CSMD1, LOC105377785 (N2757S)	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 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 2344990	NM_033225.6(CSMD1):c.8042G>A (p.Gly2681Asp)	CSMD1, LOC105377785 (G2681D)	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 3269789	NM_033225.6(CSMD1):c.7994A>G (p.Asn2665Ser)	CSMD1, LOC105377785 (N2665S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340662	NM_033225.6(CSMD1):c.7862C>T (p.Ser2621Leu)	LOC105377785, CSMD1 (S2621L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454354	NM_033225.6(CSMD1):c.7795C>T (p.Leu2599Phe)	CSMD1 (L2599F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541196	NM_033225.6(CSMD1):c.7782A>C (p.Leu2594Phe)	CSMD1 (L2594F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078136	NM_033225.6(CSMD1):c.7768C>G (p.Pro2590Ala)	CSMD1 (P2590A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209673	NM_033225.6(CSMD1):c.7741G>A (p.Gly2581Ser)	CSMD1 (G2581S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518502	NM_033225.6(CSMD1):c.7689G>C (p.Gln2563His)	CSMD1 (Q2563H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269803	NM_033225.6(CSMD1):c.7661C>T (p.Pro2554Leu)	CSMD1 (P2554L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318877	NM_033225.6(CSMD1):c.7649C>G (p.Pro2550Arg)	CSMD1 (P2550R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078135	NM_033225.6(CSMD1):c.7646C>A (p.Pro2549Gln)	CSMD1 (P2549Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218029	NM_033225.6(CSMD1):c.7583A>C (p.Glu2528Ala)	CSMD1 (E2528A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511877	NM_033225.6(CSMD1):c.7579C>G (p.Leu2527Val)	CSMD1 (L2527V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548847	NM_033225.6(CSMD1):c.7544G>C (p.Ser2515Thr)	CSMD1 (S2515T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535325	NM_033225.6(CSMD1):c.7452C>G (p.Asp2484Glu)	CSMD1 (D2484E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263499	NM_033225.6(CSMD1):c.7445A>G (p.Gln2482Arg)	CSMD1 (Q2482R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213647	NM_033225.6(CSMD1):c.7444C>G (p.Gln2482Glu)	CSMD1 (Q2482E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269805	NM_033225.6(CSMD1):c.7391G>A (p.Arg2464Gln)	CSMD1 (R2464Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078133	NM_033225.6(CSMD1):c.7339A>G (p.Thr2447Ala)	CSMD1 (T2447A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268367	NM_033225.6(CSMD1):c.7335C>A (p.Asn2445Lys)	CSMD1 (N2445K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342921	NM_033225.6(CSMD1):c.7325G>A (p.Gly2442Asp)	CSMD1 (G2442D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617763	NM_033225.6(CSMD1):c.7304C>T (p.Thr2435Ile)	CSMD1 (T2435I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078132	NM_033225.6(CSMD1):c.7228C>G (p.Leu2410Val)	CSMD1 (L2410V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389820	NM_033225.6(CSMD1):c.7222T>A (p.Leu2408Ile)	CSMD1 (L2408I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078131	NM_033225.6(CSMD1):c.7221G>T (p.Gln2407His)	CSMD1 (Q2407H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296493	NM_033225.6(CSMD1):c.7198A>C (p.Asn2400His)	CSMD1 (N2400H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269729	NM_033225.6(CSMD1):c.7194A>T (p.Gln2398His)	CSMD1 (Q2398H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552609	NM_033225.6(CSMD1):c.7159C>G (p.Leu2387Val)	CSMD1 (L2387V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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