ClinVar for Gene (Select 153562) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3342676	NM_001038603.3(MARVELD2):c.772G>A (p.Val258Met)	MARVELD2 (V258M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3337268	NM_001038603.3(MARVELD2):c.1203del (p.Asp402fs)	MARVELD2 (D390fs +1 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 3293355	NM_001038603.3(MARVELD2):c.473C>T (p.Pro158Leu)	MARVELD2 (P158L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3293354	NM_001038603.3(MARVELD2):c.1650G>A (p.Met550Ile)	MARVELD2 (M550I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3252739	NM_001038603.3(MARVELD2):c.379C>T (p.Arg127Cys)	MARVELD2 (R127C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252731	NM_001038603.3(MARVELD2):c.31G>T (p.Asp11Tyr)	MARVELD2 (D11Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3148880	GRCh37/hg19 5q12.3-13.2(chr5:64364710-72835471)x1	ADAMTS6, CDK7 +40 more	Copy number loss	See cases	GPathogenic
Select item 3123703	NM_001038603.3(MARVELD2):c.434G>T (p.Ser145Ile)	MARVELD2 (S145I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3075903	NM_001038603.3(MARVELD2):c.188C>A (p.Ser63Ter)	MARVELD2 (S63*)	Single nucleotide variant (nonsense)	Rare genetic deafness	GLikely pathogenic
Select item 3008813	NM_001038603.3(MARVELD2):c.1114C>A (p.Arg372=)	MARVELD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3007738	NM_001038603.3(MARVELD2):c.37C>T (p.Arg13Cys)	MARVELD2 (R13C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3002373	NM_001038603.3(MARVELD2):c.972G>A (p.Pro324=)	MARVELD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2981512	NM_001038603.3(MARVELD2):c.508C>T (p.Arg170Ter)	MARVELD2 (R170*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2977803	NM_001038603.3(MARVELD2):c.1331+9C>T	MARVELD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2970042	NM_001038603.3(MARVELD2):c.949C>T (p.Arg317Ter)	MARVELD2 (R317*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2964947	NM_001038603.3(MARVELD2):c.430T>G (p.Phe144Val)	MARVELD2 (F144V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2888831	NM_001038603.3(MARVELD2):c.918C>T (p.Ala306=)	MARVELD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2872820	NM_001038603.3(MARVELD2):c.1183-4G>A	MARVELD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2869011	NM_001038603.3(MARVELD2):c.801C>T (p.Thr267=)	MARVELD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2854039	NM_001038603.3(MARVELD2):c.732G>A (p.Gly244=)	MARVELD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2834628	NM_001038603.3(MARVELD2):c.1272G>T (p.Leu424=)	MARVELD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2804981	NM_001038603.3(MARVELD2):c.1467G>A (p.Val489=)	MARVELD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2785976	NM_001038603.3(MARVELD2):c.564G>A (p.Ser188=)	MARVELD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2716302	NM_001038603.3(MARVELD2):c.216G>A (p.Ala72=)	MARVELD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2682885	NM_001038603.3(MARVELD2):c.1306C>A (p.Pro436Thr)	MARVELD2 (P424T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2655506	NM_001038603.3(MARVELD2):c.723T>C (p.Ser241=)	MARVELD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2572552	NM_001038603.3(MARVELD2):c.666C>G (p.Tyr222Ter)	MARVELD2 (Y222*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 49	GPathogenic
Select item 2533560	NM_001038603.3(MARVELD2):c.1297A>G (p.Ile433Val)	MARVELD2 (I433V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2503289	NM_001038603.3(MARVELD2):c.1007G>A (p.Arg336Gln)	MARVELD2 (R336Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2499415	NM_001038603.3(MARVELD2):c.1425A>C (p.Glu475Asp)	MARVELD2 (E463D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2499344	NM_001038603.3(MARVELD2):c.541C>G (p.Leu181Val)	MARVELD2 (L181V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2475934	NM_001038603.3(MARVELD2):c.467G>A (p.Arg156Gln)	MARVELD2 (R156Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2475407	NM_001038603.3(MARVELD2):c.370C>T (p.Pro124Ser)	MARVELD2 (P124S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2463859	NM_001038603.3(MARVELD2):c.706G>A (p.Val236Ile)	MARVELD2 (V236I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2433645	NM_001038603.3(MARVELD2):c.1554+286T>C	MARVELD2	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 49	GUncertain significance
Select item 2430296	NM_001038603.3(MARVELD2):c.1369C>T (p.Arg457Cys)	MARVELD2 (R445C +1 more)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 2428988	NM_001038603.3(MARVELD2):c.43G>A (p.Asp15Asn)	MARVELD2 (D15N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2423538	NC_000005.9:g.(?_68715213)_(68737481_?)del	MARVELD2	Deletion	not provided	GPathogenic
Select item 2420742	NM_001038603.3(MARVELD2):c.1147-9T>C	MARVELD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2405066	NM_001038603.3(MARVELD2):c.716T>G (p.Leu239Trp)	MARVELD2 (L239W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2381708	NM_001038603.3(MARVELD2):c.1557T>A (p.Asp519Glu)	MARVELD2 (D519E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2359100	NM_001038603.3(MARVELD2):c.922G>C (p.Ala308Pro)	MARVELD2 (A308P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2314151	NM_001038603.3(MARVELD2):c.800C>T (p.Thr267Ile)	MARVELD2 (T267I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2273858	NM_001038603.3(MARVELD2):c.197C>G (p.Thr66Arg)	MARVELD2 (T66R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2263441	NM_001038603.3(MARVELD2):c.829A>G (p.Met277Val)	MARVELD2 (M277V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2086979	NM_001038603.3(MARVELD2):c.1361A>T (p.Glu454Val)	MARVELD2 (E442V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2060125	NM_001038603.3(MARVELD2):c.363A>C (p.Pro121=)	MARVELD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2031281	NM_001038603.3(MARVELD2):c.519T>C (p.Ser173=)	MARVELD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1946804	NM_001038603.3(MARVELD2):c.132T>C (p.Asp44=)	MARVELD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1940571	NM_001038603.3(MARVELD2):c.1448T>C (p.Phe483Ser)	MARVELD2 (F471S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1930523	NM_001038603.3(MARVELD2):c.1580A>G (p.Glu527Gly)	MARVELD2 (E527G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1921731	NM_001038603.3(MARVELD2):c.330C>T (p.Ser110=)	MARVELD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1879627	NM_001038603.3(MARVELD2):c.1122_1123del (p.His374fs)	MARVELD2 (H374fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1879626	NM_001038603.3(MARVELD2):c.153C>T (p.Leu51=)	MARVELD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1800879	NM_001038603.3(MARVELD2):c.1109C>T (p.Ala370Val)	MARVELD2 (A370V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1722870	NM_001038603.3(MARVELD2):c.838C>T (p.Arg280Trp)	MARVELD2 (R280W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1657265	NM_001038603.3(MARVELD2):c.1089A>G (p.Leu363=)	MARVELD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1640959	NM_001038603.3(MARVELD2):c.891C>T (p.Asn297=)	MARVELD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1628750	NM_001038603.3(MARVELD2):c.1536G>A (p.Glu512=)	MARVELD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1621511	NM_001038603.3(MARVELD2):c.186C>T (p.Tyr62=)	MARVELD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1556597	NM_001038603.3(MARVELD2):c.1170G>A (p.Ser390=)	MARVELD2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1527167	GRCh37/hg19 5q12.3-13.2(chr5:64049692-70306646)	ADAMTS6, CCDC125 +28 more	Copy number loss	not specified	GPathogenic
Select item 1509649	NM_001038603.3(MARVELD2):c.7A>G (p.Asn3Asp)	MARVELD2 (N3D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1503405	NM_001038603.3(MARVELD2):c.782G>A (p.Gly261Glu)	MARVELD2 (G261E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1501424	NM_001038603.3(MARVELD2):c.1490C>T (p.Ser497Leu)	MARVELD2 (S497L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1497686	NM_001038603.3(MARVELD2):c.292G>A (p.Glu98Lys)	MARVELD2 (E98K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1474679	NM_001038603.3(MARVELD2):c.1142A>G (p.Gln381Arg)	MARVELD2 (Q381R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1460943	NM_001038603.3(MARVELD2):c.400A>G (p.Lys134Glu)	MARVELD2 (K134E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1446607	NM_001038603.3(MARVELD2):c.259A>T (p.Lys87Ter)	MARVELD2 (K87*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1419346	NM_001038603.3(MARVELD2):c.958C>G (p.Leu320Val)	MARVELD2 (L320V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1416027	NM_001038603.3(MARVELD2):c.1352C>G (p.Thr451Arg)	MARVELD2 (T439R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1367727	NM_001038603.3(MARVELD2):c.458T>C (p.Val153Ala)	MARVELD2 (V153A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1356139	NM_001038603.3(MARVELD2):c.802A>G (p.Ile268Val)	MARVELD2 (I268V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1341612	NM_001038603.3(MARVELD2):c.491G>A (p.Arg164Gln)	MARVELD2 (R164Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1334344	NM_001038603.3(MARVELD2):c.932A>G (p.Tyr311Cys)	MARVELD2 (Y311C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1329615	NM_001038603.3(MARVELD2):c.1213A>G (p.Arg405Gly)	MARVELD2 (R393G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1328627	NM_001038603.3(MARVELD2):c.238C>T (p.Arg80Cys)	MARVELD2 (R80C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1325909	NM_001038603.3(MARVELD2):c.199GAA[1] (p.Glu68del)	MARVELD2 (E68del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 1311875	NM_001038603.3(MARVELD2):c.887T>G (p.Ile296Ser)	MARVELD2 (I296S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1305140	NM_001038603.3(MARVELD2):c.971C>A (p.Pro324Gln)	MARVELD2 (P324Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1299311	NM_001038603.3(MARVELD2):c.608dup (p.Leu203fs)	MARVELD2 (L203fs)	Duplication (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 49	GPathogenic
Select item 1286433	NM_001038603.3(MARVELD2):c.1182+83G>A	MARVELD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271045	NM_001038603.3(MARVELD2):c.1503+84dup	MARVELD2	Duplication (intron variant)	not provided	GBenign
Select item 1260465	NM_001038603.3(MARVELD2):c.1146+275A>T	MARVELD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1254896	NM_001038603.3(MARVELD2):c.490C>T (p.Arg164Ter)	MARVELD2 (R164*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1247288	NM_001038603.3(MARVELD2):c.1146+105G>A	MARVELD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225860	NM_001038603.3(MARVELD2):c.1331+42G>A	MARVELD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1219442	NM_001038603.3(MARVELD2):c.1503+81_1503+84del	MARVELD2	Deletion (intron variant)	not provided	GLikely benign
Select item 1219218	NM_001038603.3(MARVELD2):c.1476A>G (p.Arg492=)	MARVELD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1218762	NM_001038603.3(MARVELD2):c.534G>A (p.Glu178=)	MARVELD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1213474	NM_001038603.3(MARVELD2):c.291C>T (p.Pro97=)	MARVELD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1210829	NM_001038603.3(MARVELD2):c.1503+84T>C	MARVELD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1203484	NM_001038603.3(MARVELD2):c.215C>G (p.Ala72Gly)	MARVELD2 (A72G)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1202344	NM_001038603.3(MARVELD2):c.1182+58G>A	MARVELD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1196392	NM_001038603.3(MARVELD2):c.1554+91C>T	MARVELD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1195658	NM_001038603.3(MARVELD2):c.1554+251A>G	MARVELD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1195080	NM_001038603.3(MARVELD2):c.1503+76_1503+84del	MARVELD2	Deletion (intron variant)	not provided	GLikely benign
Select item 1185092	NM_001038603.3(MARVELD2):c.1208_1211del (p.Arg403fs)	MARVELD2 (R391fs +1 more)	Microsatellite (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 49	GLikely pathogenic
Select item 1185091	NM_001038603.3(MARVELD2):c.1122dup (p.Arg375Ter)	MARVELD2 (R375*)	Duplication (nonsense)	Autosomal recessive nonsyndromic hearing loss 49	GLikely pathogenic
Select item 996714	NM_001038603.3(MARVELD2):c.1138C>T (p.Gln380Ter)	MARVELD2 (Q380*)	Single nucleotide variant (nonsense)	Hearing loss, autosomal recessive	GLikely pathogenic

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