ClinVar for Gene (Select 93589) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3292132	NM_001039029.3(LRTM2):c.419C>G (p.Pro140Arg)	CACNA2D4, LRTM2 (P140R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3292131	NM_001039029.3(LRTM2):c.102G>T (p.Glu34Asp)	CACNA2D4, LRTM2 (E34D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3292130	NM_001039029.3(LRTM2):c.955G>A (p.Gly319Ser)	CACNA2D4, LRTM2 (G319S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3292129	NM_001039029.3(LRTM2):c.212G>A (p.Arg71Gln)	CACNA2D4, LRTM2 (R71Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3292128	NM_001039029.3(LRTM2):c.317G>A (p.Arg106Gln)	CACNA2D4, LRTM2 (R106Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3262841	NM_172364.5(CACNA2D4):c.2743G>T (p.Val915Leu)	CACNA2D4 (V915L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3262840	NM_172364.5(CACNA2D4):c.1615G>A (p.Glu539Lys)	CACNA2D4 (E539K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3262839	NM_172364.5(CACNA2D4):c.1445A>G (p.Asp482Gly)	CACNA2D4 (D482G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3262838	NM_172364.5(CACNA2D4):c.2464G>A (p.Gly822Arg)	CACNA2D4 (G822R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3262836	NM_172364.5(CACNA2D4):c.3067G>A (p.Ala1023Thr)	CACNA2D4 (A1023T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3262835	NM_172364.5(CACNA2D4):c.1481G>A (p.Ser494Asn)	CACNA2D4 (S494N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3244445	NC_000012.11:g.(?_1902821)_(1906721_?)del	CACNA2D4	Deletion	not provided	GUncertain significance
Select item 3244444	NC_000012.11:g.(?_1902821)_(1910304_?)del	CACNA2D4	Deletion	not provided	GUncertain significance
Select item 3234715	NM_172364.5(CACNA2D4):c.3177_3178dup (p.Asp1060fs)	CACNA2D4 (D1060fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 3136478	NM_172364.5(CACNA2D4):c.2300T>C (p.Leu767Pro)	CACNA2D4 (L767P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3136477	NM_172364.5(CACNA2D4):c.2176G>A (p.Val726Met)	CACNA2D4 (V726M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3136476	NM_172364.5(CACNA2D4):c.1973A>G (p.Glu658Gly)	CACNA2D4 (E658G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3136475	NM_172364.5(CACNA2D4):c.1931C>G (p.Thr644Ser)	CACNA2D4 (T644S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3136474	NM_172364.5(CACNA2D4):c.1820T>G (p.Met607Arg)	CACNA2D4 (M607R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3136473	NM_172364.5(CACNA2D4):c.1409T>G (p.Leu470Arg)	CACNA2D4 (L470R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3136472	NM_172364.5(CACNA2D4):c.1212C>G (p.Ser404Arg)	CACNA2D4 (S404R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3121249	NM_001039029.3(LRTM2):c.509C>G (p.Ser170Trp)	CACNA2D4, LRTM2 (S170W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3121248	NM_001039029.3(LRTM2):c.451G>A (p.Gly151Ser)	CACNA2D4, LRTM2 (G151S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3121247	NM_001039029.3(LRTM2):c.409C>T (p.Arg137Trp)	CACNA2D4, LRTM2 (R137W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3121246	NM_001039029.3(LRTM2):c.402C>A (p.Asp134Glu)	CACNA2D4, LRTM2 (D134E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3121245	NM_001039029.3(LRTM2):c.287G>A (p.Arg96Gln)	CACNA2D4, LRTM2 (R96Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3121243	NM_001039029.3(LRTM2):c.265G>A (p.Ala89Thr)	CACNA2D4, LRTM2 (A89T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063268	GRCh37/hg19 12p13.33(chr12:1950037-1986237)x1	CACNA2D4	Copy number loss	not specified	GUncertain significance
Select item 3063250	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835641)x3	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 3052641	NM_172364.5(CACNA2D4):c.756A>C (p.Ala252=)	CACNA2D4	Single nucleotide variant (synonymous variant)	CACNA2D4-related disorder	GLikely benign
Select item 3047918	NM_172364.5(CACNA2D4):c.-2T>C	CACNA2D4	Single nucleotide variant (5 prime UTR variant)	CACNA2D4-related disorder	GLikely benign
Select item 3024578	GRCh37/hg19 12p13.33(chr12:922808-2129821)x1	ADIPOR2, CACNA2D4 +7 more	Copy number loss	not provided	GLikely pathogenic
Select item 3017315	NM_172364.5(CACNA2D4):c.1351+8C>T	CACNA2D4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3010921	NM_172364.5(CACNA2D4):c.1272+20C>A	CACNA2D4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3010542	NM_172364.5(CACNA2D4):c.3272G>A (p.Arg1091His)	CACNA2D4 (R1091H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3010038	NM_172364.5(CACNA2D4):c.2932G>C (p.Glu978Gln)	CACNA2D4 (E978Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3009049	NM_172364.5(CACNA2D4):c.1363C>T (p.Gln455Ter)	CACNA2D4 (Q455*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3007179	NM_172364.5(CACNA2D4):c.256G>C (p.Gly86Arg)	CACNA2D4 (G86R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3004350	NM_172364.5(CACNA2D4):c.3169_3170insGGACC (p.Pro1057fs)	CACNA2D4 (P1057fs)	Insertion (frameshift variant)	not provided	GUncertain significance
Select item 3003899	NM_172364.5(CACNA2D4):c.2341A>G (p.Arg781Gly)	CACNA2D4 (R781G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3003771	NM_172364.5(CACNA2D4):c.2470+13C>G	CACNA2D4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3000742	NM_172364.5(CACNA2D4):c.2316C>G (p.Phe772Leu)	CACNA2D4 (F772L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2995369	NM_172364.5(CACNA2D4):c.2343-20C>G	CACNA2D4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2992873	NM_172364.5(CACNA2D4):c.3085G>A (p.Gly1029Arg)	CACNA2D4 (G1029R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2990529	NM_172364.5(CACNA2D4):c.1720-18C>G	CACNA2D4	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2990103	NM_172364.5(CACNA2D4):c.1798G>C (p.Ala600Pro)	CACNA2D4 (A600P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2989942	NM_172364.5(CACNA2D4):c.1600G>A (p.Asp534Asn)	CACNA2D4 (D534N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2987721	NM_172364.5(CACNA2D4):c.2229G>A (p.Leu743=)	CACNA2D4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2984269	NM_172364.5(CACNA2D4):c.2388C>G (p.Asp796Glu)	CACNA2D4 (D796E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2983490	NM_172364.5(CACNA2D4):c.3055G>A (p.Val1019Met)	CACNA2D4 (V1019M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2977057	NM_172364.5(CACNA2D4):c.124G>A (p.Val42Met)	CACNA2D4 (V42M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2975867	NM_172364.5(CACNA2D4):c.2113A>G (p.Met705Val)	CACNA2D4 (M705V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2974982	NM_172364.5(CACNA2D4):c.1857G>C (p.Val619=)	CACNA2D4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2973521	NM_172364.5(CACNA2D4):c.1039C>A (p.Leu347Ile)	CACNA2D4 (L347I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2971606	NM_172364.5(CACNA2D4):c.486+11C>T	CACNA2D4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2971600	NM_172364.5(CACNA2D4):c.2247-19C>T	CACNA2D4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2971360	NM_172364.5(CACNA2D4):c.1321C>G (p.Arg441Gly)	CACNA2D4 (R441G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2971359	NM_172364.5(CACNA2D4):c.1776C>T (p.Ser592=)	CACNA2D4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2970598	NM_172364.5(CACNA2D4):c.1352-18C>T	CACNA2D4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2970542	NM_172364.5(CACNA2D4):c.453C>T (p.Ala151=)	CACNA2D4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2969684	NM_172364.5(CACNA2D4):c.2552-13_2552-10del	CACNA2D4	Deletion (intron variant)	not provided	GLikely benign
Select item 2969159	NM_172364.5(CACNA2D4):c.3226+11A>G	CACNA2D4	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2968224	NM_172364.5(CACNA2D4):c.227+17A>T	CACNA2D4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2967323	NM_172364.5(CACNA2D4):c.3306A>G (p.Pro1102=)	CACNA2D4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2963609	NM_172364.5(CACNA2D4):c.1084G>C (p.Val362Leu)	CACNA2D4 (V362L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2963595	NM_172364.5(CACNA2D4):c.727A>G (p.Thr243Ala)	CACNA2D4 (T243A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2960562	NM_172364.5(CACNA2D4):c.156C>T (p.Ala52=)	CACNA2D4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2958846	NM_172364.5(CACNA2D4):c.1645-16C>T	CACNA2D4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2958483	NM_172364.5(CACNA2D4):c.183C>T (p.Thr61=)	CACNA2D4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2955899	NM_172364.5(CACNA2D4):c.2902C>T (p.Leu968=)	CACNA2D4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2914779	NM_172364.5(CACNA2D4):c.3310-9C>T	CACNA2D4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2907839	NM_172364.5(CACNA2D4):c.1941-10del	CACNA2D4	Deletion (intron variant)	not provided	GLikely benign
Select item 2894556	NM_172364.5(CACNA2D4):c.3138C>G (p.Pro1046=)	CACNA2D4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2881967	NM_172364.5(CACNA2D4):c.1419C>T (p.Leu473=)	CACNA2D4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2881052	NM_172364.5(CACNA2D4):c.1948G>A (p.Val650Met)	CACNA2D4 (V650M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2880680	NM_172364.5(CACNA2D4):c.309+3C>G	CACNA2D4	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2878653	NM_172364.5(CACNA2D4):c.3344C>A (p.Thr1115Asn)	CACNA2D4 (T1115N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2878252	NM_172364.5(CACNA2D4):c.654A>G (p.Pro218=)	CACNA2D4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2878102	NM_172364.5(CACNA2D4):c.829C>T (p.Arg277Ter)	CACNA2D4 (R277*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2871876	NM_172364.5(CACNA2D4):c.1934C>T (p.Pro645Leu)	CACNA2D4 (P645L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2862198	NM_172364.5(CACNA2D4):c.2151G>A (p.Glu717=)	CACNA2D4	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2860545	NM_172364.5(CACNA2D4):c.427-8T>A	CACNA2D4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2858435	NM_172364.5(CACNA2D4):c.2614-20G>C	CACNA2D4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2849848	NM_172364.5(CACNA2D4):c.1711_1712insA (p.Arg571fs)	CACNA2D4 (R571fs)	Insertion (frameshift variant)	not provided	GUncertain significance
Select item 2842238	NM_172364.5(CACNA2D4):c.1069-8C>A	CACNA2D4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2841427	NM_172364.5(CACNA2D4):c.3272G>C (p.Arg1091Pro)	CACNA2D4 (R1091P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2839996	NM_172364.5(CACNA2D4):c.2081C>T (p.Pro694Leu)	CACNA2D4 (P694L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2839540	NM_172364.5(CACNA2D4):c.197C>A (p.Ala66Glu)	CACNA2D4 (A66E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2838048	NM_172364.5(CACNA2D4):c.1685G>A (p.Gly562Asp)	CACNA2D4 (G562D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2836760	NM_172364.5(CACNA2D4):c.876A>G (p.Ile292Met)	CACNA2D4 (I292M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2834871	NM_172364.5(CACNA2D4):c.2135A>T (p.Lys712Met)	CACNA2D4 (K712M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2832813	NM_172364.5(CACNA2D4):c.1273-20C>T	CACNA2D4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2832549	NM_172364.5(CACNA2D4):c.2869-16A>G	CACNA2D4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2830847	NM_172364.5(CACNA2D4):c.1486-19G>C	CACNA2D4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2830506	NM_172364.5(CACNA2D4):c.608C>T (p.Ser203Phe)	CACNA2D4 (S203F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2828775	NM_172364.5(CACNA2D4):c.2153-10T>G	CACNA2D4	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2826239	NM_172364.5(CACNA2D4):c.677T>C (p.Met226Thr)	CACNA2D4 (M226T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2824432	NM_172364.5(CACNA2D4):c.2995+8G>C	CACNA2D4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2818284	NM_172364.5(CACNA2D4):c.3309+15G>A	CACNA2D4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2817789	NM_172364.5(CACNA2D4):c.1645-14C>A	CACNA2D4	Single nucleotide variant (intron variant)	not provided	GLikely benign

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