ClinVar for MedGen (Select 1736667) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068235	NM_032756.4(HPDL):c.652C>G (p.Gln218Glu)	HPDL (Q218E)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GUncertain significance
Select item 3068170	NM_032756.4(HPDL):c.1058A>T (p.Asn353Ile)	HPDL (N353I)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GUncertain significance
Select item 3008391	NM_000817.3(GAD1):c.1120-9T>A	GAD1	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GLikely benign
Select item 2992481	NM_000817.3(GAD1):c.1263+10C>T	GAD1	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GLikely benign
Select item 2992061	NM_000817.3(GAD1):c.867+18T>C	GAD1	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GLikely benign
Select item 2988059	NM_000817.3(GAD1):c.83-7del	GAD1	Deletion (intron variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GLikely benign
Select item 2976348	NM_000817.3(GAD1):c.83-5C>T	GAD1	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GLikely benign
Select item 2961335	NM_000817.3(GAD1):c.429C>T (p.His143=)	GAD1	Single nucleotide variant (synonymous variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GLikely benign
Select item 2852928	NM_000817.3(GAD1):c.304+18C>G	GAD1	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GLikely benign
Select item 2834264	NM_000817.3(GAD1):c.1323G>A (p.Gln441=)	GAD1	Single nucleotide variant (synonymous variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GLikely benign
Select item 2826230	NM_000817.3(GAD1):c.38C>T (p.Ser13Leu)	GAD1 (S13L)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GUncertain significance
Select item 2821991	NM_000817.3(GAD1):c.867+14G>A	GAD1	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GLikely benign
Select item 2818999	NM_000817.3(GAD1):c.18A>G (p.Pro6=)	GAD1	Single nucleotide variant (synonymous variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GLikely benign
Select item 2804356	NM_000817.3(GAD1):c.1002+4T>C	GAD1	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GUncertain significance
Select item 2754042	NM_000817.3(GAD1):c.633C>T (p.Thr211=)	GAD1	Single nucleotide variant (synonymous variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GLikely benign
Select item 2740902	NM_000817.3(GAD1):c.477T>C (p.Ser159=)	GAD1	Single nucleotide variant (synonymous variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GLikely benign
Select item 2739739	NM_000817.3(GAD1):c.1672C>G (p.Pro558Ala)	GAD1 (P558A)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GUncertain significance
Select item 2739557	NM_000817.3(GAD1):c.304+20C>T	GAD1	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GLikely benign
Select item 2737947	NM_000817.3(GAD1):c.1467C>T (p.Tyr489=)	GAD1	Single nucleotide variant (synonymous variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GLikely benign
Select item 2732402	NM_000817.3(GAD1):c.145+15C>T	GAD1	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GLikely benign
Select item 2730151	NM_000817.3(GAD1):c.405C>T (p.Ser135=)	GAD1	Single nucleotide variant (synonymous variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GLikely benign
Select item 2430273	NM_032756.4(HPDL):c.232G>T (p.Ala78Ser)	HPDL (A78S)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GUncertain significance
Select item 2428466	NM_000817.3(GAD1):c.1002+11C>T	GAD1	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GLikely benign
Select item 2415839	NM_000817.3(GAD1):c.751+20del	GAD1	Deletion (intron variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GLikely benign
Select item 2196386	NM_000817.3(GAD1):c.1594C>T (p.Arg532Trp)	GAD1 (R532W)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GUncertain significance
Select item 2196375	NM_000817.3(GAD1):c.1566C>A (p.Leu522=)	GAD1	Single nucleotide variant (synonymous variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GLikely benign
Select item 2174904	NM_000817.3(GAD1):c.1224C>G (p.Gly408=)	GAD1	Single nucleotide variant (synonymous variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GLikely benign
Select item 2171122	NM_000817.3(GAD1):c.1569G>A (p.Arg523=)	GAD1	Single nucleotide variant (synonymous variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GLikely benign
Select item 2163042	NM_000817.3(GAD1):c.705G>A (p.Glu235=)	GAD1	Single nucleotide variant (synonymous variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GLikely benign
Select item 2148595	NM_000817.3(GAD1):c.493C>T (p.Leu165=)	GAD1	Single nucleotide variant (synonymous variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GLikely benign
Select item 2129735	NM_000817.3(GAD1):c.548-2A>C	GAD1	Single nucleotide variant (splice acceptor variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GLikely pathogenic
Select item 2128603	NM_000817.3(GAD1):c.1414-9T>C	GAD1	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GLikely benign
Select item 2123370	NM_000817.3(GAD1):c.61A>G (p.Thr21Ala)	GAD1 (T21A)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GUncertain significance
Select item 2060824	NM_000817.3(GAD1):c.1224C>T (p.Gly408=)	GAD1	Single nucleotide variant (synonymous variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities +1 more	GLikely benign
Select item 2059747	NM_000817.3(GAD1):c.486C>T (p.Pro162=)	GAD1	Single nucleotide variant (synonymous variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GLikely benign
Select item 2050550	NM_000817.3(GAD1):c.51G>A (p.Ala17=)	GAD1	Single nucleotide variant (synonymous variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GLikely benign
Select item 2033186	NM_000817.3(GAD1):c.1263+8C>T	GAD1	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GLikely benign
Select item 2028082	NM_000817.3(GAD1):c.1003-10del	GAD1	Deletion (intron variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GLikely benign
Select item 2006137	NM_000817.3(GAD1):c.1263+6T>A	GAD1	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GUncertain significance
Select item 2003124	NM_000817.3(GAD1):c.1728C>A (p.Thr576=)	GAD1	Single nucleotide variant (synonymous variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GLikely benign
Select item 1992056	NM_000817.3(GAD1):c.1413+9G>A	GAD1	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GLikely benign
Select item 1990324	NM_000817.3(GAD1):c.114A>T (p.Gly38=)	GAD1	Single nucleotide variant (synonymous variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GLikely benign
Select item 1988621	NM_000817.3(GAD1):c.1611+12C>G	GAD1	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GLikely benign
Select item 1984645	NM_000817.3(GAD1):c.962C>T (p.Pro321Leu)	GAD1 (P321L)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GUncertain significance
Select item 1983756	NM_000817.3(GAD1):c.638+18dup	GAD1	Duplication (intron variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GBenign
Select item 1980102	NM_000817.3(GAD1):c.1702A>T (p.Met568Leu)	GAD1 (M568L)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GUncertain significance
Select item 1976313	NM_000817.3(GAD1):c.103G>A (p.Val35Met)	GAD1 (V35M)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GUncertain significance
Select item 1963350	NM_000817.3(GAD1):c.1159C>T (p.Arg387Cys)	GAD1 (R387C)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GUncertain significance
Select item 1943865	NM_000817.3(GAD1):c.167G>T (p.Ser56Ile)	GAD1 (S56I)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GUncertain significance
Select item 1933350	NM_000817.3(GAD1):c.1259A>G (p.Glu420Gly)	GAD1 (E420G)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GUncertain significance
Select item 1928721	NM_000817.3(GAD1):c.1185-18C>T	GAD1	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GLikely benign
Select item 1915215	NM_000817.3(GAD1):c.1003-20A>G	GAD1	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GLikely benign
Select item 1802210	NM_032756.4(HPDL):c.119A>C (p.Asp40Ala)	HPDL (D40A)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GUncertain significance
Select item 1694510	NM_032756.4(HPDL):c.1017G>A (p.Glu339=)	HPDL	Single nucleotide variant (synonymous variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities +2 more	GLikely benign
Select item 1683729	NM_032756.4(HPDL):c.134T>A (p.Leu45Gln)	HPDL (L45Q)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities +1 more	GConflicting classifications of pathogenicity
Select item 1667482	NM_000817.3(GAD1):c.868-19G>A	GAD1	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GLikely benign
Select item 1664357	NM_000817.3(GAD1):c.1612-15G>A	GAD1	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GLikely benign
Select item 1663893	NM_000817.3(GAD1):c.304+14C>G	GAD1	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GLikely benign
Select item 1645864	NM_000817.3(GAD1):c.1731G>A (p.Gln577=)	GAD1	Single nucleotide variant (synonymous variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GLikely benign
Select item 1637484	NM_000817.3(GAD1):c.1452G>A (p.Leu484=)	GAD1	Single nucleotide variant (synonymous variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GLikely benign
Select item 1623951	NM_000817.3(GAD1):c.145+9C>T	GAD1	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GLikely benign
Select item 1618071	NM_000817.3(GAD1):c.591T>C (p.Ile197=)	GAD1	Single nucleotide variant (synonymous variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GLikely benign
Select item 1615010	NM_000817.3(GAD1):c.146-19C>T	GAD1	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GLikely benign
Select item 1607187	NM_000817.3(GAD1):c.846G>T (p.Leu282=)	GAD1	Single nucleotide variant (synonymous variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GLikely benign
Select item 1602530	NM_000817.3(GAD1):c.305-10C>T	GAD1	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GLikely benign
Select item 1592646	NM_000817.3(GAD1):c.1338C>T (p.Tyr446=)	GAD1	Single nucleotide variant (synonymous variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GLikely benign
Select item 1585311	NM_000817.3(GAD1):c.213A>G (p.Gln71=)	GAD1	Single nucleotide variant (synonymous variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GLikely benign
Select item 1584970	NM_000817.3(GAD1):c.1095A>G (p.Lys365=)	GAD1	Single nucleotide variant (synonymous variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GLikely benign
Select item 1581577	NM_000817.3(GAD1):c.1521+15T>C	GAD1	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GLikely benign
Select item 1580801	NM_000817.3(GAD1):c.1263+11C>A	GAD1	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GLikely benign
Select item 1578977	NM_000817.3(GAD1):c.146-15C>A	GAD1	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GLikely benign
Select item 1566847	NM_000817.3(GAD1):c.1743C>T (p.Asp581=)	GAD1	Single nucleotide variant (synonymous variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GLikely benign
Select item 1564604	NM_000817.3(GAD1):c.1120-11T>C	GAD1	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GLikely benign
Select item 1563164	NM_000817.3(GAD1):c.315G>T (p.Pro105=)	GAD1	Single nucleotide variant (synonymous variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GLikely benign
Select item 1553901	NM_000817.3(GAD1):c.1722C>T (p.Ala574=)	GAD1	Single nucleotide variant (synonymous variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GLikely benign
Select item 1551689	NM_000817.3(GAD1):c.1557A>G (p.Pro519=)	GAD1	Single nucleotide variant (synonymous variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GLikely benign
Select item 1550520	NM_000817.3(GAD1):c.1521+17G>C	GAD1	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GLikely benign
Select item 1522846	NM_000817.3(GAD1):c.203A>G (p.Lys68Arg)	GAD1 (K68R)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GUncertain significance
Select item 1509172	NM_000817.3(GAD1):c.757G>A (p.Ala253Thr)	GAD1 (A253T)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GUncertain significance
Select item 1507693	NM_000817.3(GAD1):c.484C>G (p.Pro162Ala)	GAD1 (P162A)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GUncertain significance
Select item 1506964	NM_000817.3(GAD1):c.449G>T (p.Gly150Val)	GAD1 (G150V)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GUncertain significance
Select item 1505978	NM_000817.3(GAD1):c.1652C>T (p.Thr551Met)	GAD1 (T551M)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GUncertain significance
Select item 1496682	NM_000817.3(GAD1):c.331G>A (p.Glu111Lys)	GAD1 (E111K)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GUncertain significance
Select item 1496084	NM_000817.3(GAD1):c.1747C>T (p.Leu583Phe)	GAD1 (L583F)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GUncertain significance
Select item 1487195	NM_000817.3(GAD1):c.638+10A>G	GAD1	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GUncertain significance
Select item 1484164	NM_000817.3(GAD1):c.385C>A (p.Arg129Ser)	GAD1 (R129S)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GUncertain significance
Select item 1450658	NM_000817.3(GAD1):c.885G>C (p.Lys295Asn)	GAD1 (K295N)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GUncertain significance
Select item 1445585	NM_000817.3(GAD1):c.54C>A (p.Asp18Glu)	GAD1 (D18E)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GUncertain significance
Select item 1441787	NM_000817.3(GAD1):c.624G>A (p.Thr208=)	GAD1	Single nucleotide variant (synonymous variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GLikely benign
Select item 1439679	NM_000817.3(GAD1):c.896C>T (p.Ala299Val)	GAD1 (A299V)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GUncertain significance
Select item 1430282	NM_000817.3(GAD1):c.382G>A (p.Val128Ile)	GAD1 (V128I)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GUncertain significance
Select item 1429193	NM_000817.3(GAD1):c.249C>A (p.Asp83Glu)	GAD1 (D83E)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GUncertain significance
Select item 1428005	NM_000817.3(GAD1):c.177G>C (p.Glu59Asp)	GAD1 (E59D)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GUncertain significance
Select item 1412048	NM_000817.3(GAD1):c.251G>A (p.Arg84Gln)	GAD1 (R84Q)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GUncertain significance
Select item 1392861	NM_000817.3(GAD1):c.236G>A (p.Cys79Tyr)	GAD1 (C79Y)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GUncertain significance
Select item 1389291	NM_000817.3(GAD1):c.830C>T (p.Ala277Val)	GAD1 (A277V)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GUncertain significance
Select item 1367717	NM_000817.3(GAD1):c.146-16G>T	GAD1	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GLikely benign
Select item 1347173	NM_000817.3(GAD1):c.326G>C (p.Gly109Ala)	GAD1 (G109A)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GUncertain significance
Select item 1344855	NM_032756.4(HPDL):c.3G>C (p.Met1Ile)	HPDL, LOC129930439 (M1I)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities +1 more	GPathogenic
Select item 1328237	NM_032756.4(HPDL):c.1013T>C (p.Leu338Pro)	HPDL (L338P)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities +1 more	GLikely pathogenic

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