ClinVar for MedGen (Select 419175) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3011359	NM_003748.4(ALDH4A1):c.596G>C (p.Gly199Ala)	ALDH4A1 (G199A +1 more)	Single nucleotide variant (missense variant)	Hyperprolinemia type 2	GUncertain significance
Select item 3010284	NM_003748.4(ALDH4A1):c.903C>T (p.Asn301=)	ALDH4A1	Single nucleotide variant (synonymous variant)	Hyperprolinemia type 2	GLikely benign
Select item 2994571	NM_003748.4(ALDH4A1):c.1460+16G>C	ALDH4A1, LOC120893116	Single nucleotide variant (intron variant)	Hyperprolinemia type 2	GLikely benign
Select item 2916705	NM_003748.4(ALDH4A1):c.1219G>T (p.Ala407Ser)	ALDH4A1 (A347S +1 more)	Single nucleotide variant (missense variant +1 more)	Hyperprolinemia type 2	GUncertain significance
Select item 2909680	NM_003748.4(ALDH4A1):c.561C>T (p.Ser187=)	ALDH4A1	Single nucleotide variant (synonymous variant)	Hyperprolinemia type 2	GLikely benign
Select item 2908535	NM_003748.4(ALDH4A1):c.1551G>A (p.Gln517=)	ALDH4A1	Single nucleotide variant (synonymous variant)	Hyperprolinemia type 2	GLikely benign
Select item 2903964	NM_003748.4(ALDH4A1):c.1368C>T (p.Tyr456=)	ALDH4A1, LOC120893116	Single nucleotide variant (synonymous variant)	Hyperprolinemia type 2	GLikely benign
Select item 2897290	NM_003748.4(ALDH4A1):c.604-18C>T	ALDH4A1, MIR4695	Single nucleotide variant (non-coding transcript variant +1 more)	Hyperprolinemia type 2	GLikely benign
Select item 2893564	NM_003748.4(ALDH4A1):c.105G>A (p.Glu35=)	ALDH4A1	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperprolinemia type 2	GLikely benign
Select item 2892028	NM_003748.4(ALDH4A1):c.828A>T (p.Ser276=)	ALDH4A1	Single nucleotide variant (synonymous variant)	Hyperprolinemia type 2	GLikely benign
Select item 2878184	NM_003748.4(ALDH4A1):c.1A>G (p.Met1Val)	ALDH4A1, LOC129929550 (M1V)	Single nucleotide variant (missense variant +1 more)	Hyperprolinemia type 2	GUncertain significance
Select item 2797725	NM_003748.4(ALDH4A1):c.1674C>T (p.Ser558=)	ALDH4A1	Single nucleotide variant (synonymous variant)	Hyperprolinemia type 2	GLikely benign
Select item 2758233	NM_003748.4(ALDH4A1):c.1563G>C (p.Gly521=)	ALDH4A1	Single nucleotide variant (synonymous variant)	Hyperprolinemia type 2	GLikely benign
Select item 2755149	NM_003748.4(ALDH4A1):c.1641C>T (p.Ile547=)	ALDH4A1	Single nucleotide variant (synonymous variant)	Hyperprolinemia type 2	GLikely benign
Select item 2741010	NM_003748.4(ALDH4A1):c.453+16G>C	ALDH4A1	Single nucleotide variant (intron variant)	Hyperprolinemia type 2	GLikely benign
Select item 2712669	NM_003748.4(ALDH4A1):c.1236C>A (p.Ser412Arg)	ALDH4A1 (S412R +1 more)	Single nucleotide variant (missense variant +1 more)	Hyperprolinemia type 2	GUncertain significance
Select item 2627894	NM_003748.4(ALDH4A1):c.240C>G (p.Tyr80Ter)	ALDH4A1 (Y20* +1 more)	Single nucleotide variant (nonsense)	Hyperprolinemia type 2	GLikely pathogenic
Select item 2424757	NC_000001.10:g.(?_19199339)_(22987879_?)dup	VWA5B1, WNT4 +49 more	Duplication	Autosomal recessive early-onset Parkinson disease 6 +2 more	GUncertain significance
Select item 2424756	NC_000001.10:g.(?_19199339)_(19201095_?)del	ALDH4A1	Deletion	Hyperprolinemia type 2	GPathogenic
Select item 2417427	NM_003748.4(ALDH4A1):c.1137+13G>A	ALDH4A1	Single nucleotide variant (intron variant)	Hyperprolinemia type 2	GLikely benign
Select item 2201073	NM_003748.4(ALDH4A1):c.1379_1380delinsGC (p.Asp460Gly)	ALDH4A1, LOC120893116 (D460G +2 more)	Indel (missense variant)	Hyperprolinemia type 2	GUncertain significance
Select item 2194695	NM_003748.4(ALDH4A1):c.1339-12C>T	ALDH4A1, LOC120893116	Single nucleotide variant (intron variant)	Hyperprolinemia type 2	GLikely benign
Select item 2194171	NM_003748.4(ALDH4A1):c.645C>T (p.Ile215=)	ALDH4A1	Single nucleotide variant (synonymous variant)	Hyperprolinemia type 2	GLikely benign
Select item 2193419	NM_003748.4(ALDH4A1):c.88C>T (p.Leu30=)	ALDH4A1	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperprolinemia type 2	GLikely benign
Select item 2191176	NM_003748.4(ALDH4A1):c.1464C>T (p.Asp488=)	ALDH4A1	Single nucleotide variant (synonymous variant)	Hyperprolinemia type 2	GLikely benign
Select item 2184539	NM_003748.4(ALDH4A1):c.1503C>T (p.Ala501=)	ALDH4A1	Single nucleotide variant (synonymous variant)	Hyperprolinemia type 2	GLikely benign
Select item 2182569	NM_003748.4(ALDH4A1):c.1618C>T (p.Arg540Cys)	ALDH4A1 (R480C +2 more)	Single nucleotide variant (missense variant)	Hyperprolinemia type 2	GUncertain significance
Select item 2180540	NM_003748.4(ALDH4A1):c.414G>A (p.Pro138=)	ALDH4A1	Single nucleotide variant (synonymous variant)	Hyperprolinemia type 2	GBenign
Select item 2172146	NM_003748.4(ALDH4A1):c.712G>A (p.Ala238Thr)	ALDH4A1 (A238T +1 more)	Single nucleotide variant (missense variant)	Hyperprolinemia type 2 +1 more	GUncertain significance
Select item 2161516	NM_003748.4(ALDH4A1):c.454-17G>A	ALDH4A1	Single nucleotide variant (intron variant)	Hyperprolinemia type 2	GLikely benign
Select item 2160205	NM_003748.4(ALDH4A1):c.1048G>T (p.Ala350Ser)	ALDH4A1 (A350S +1 more)	Single nucleotide variant (missense variant)	Hyperprolinemia type 2	GUncertain significance
Select item 2154008	NM_003748.4(ALDH4A1):c.1281C>T (p.Tyr427=)	ALDH4A1	Single nucleotide variant (synonymous variant +1 more)	Hyperprolinemia type 2	GLikely benign
Select item 2150108	NM_003748.4(ALDH4A1):c.353T>C (p.Leu118Pro)	ALDH4A1 (L58P +1 more)	Single nucleotide variant (missense variant)	Hyperprolinemia type 2	GUncertain significance
Select item 2147657	NM_003748.4(ALDH4A1):c.123G>A (p.Thr41=)	ALDH4A1	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperprolinemia type 2	GLikely benign
Select item 2140045	NM_003748.4(ALDH4A1):c.479T>C (p.Ile160Thr)	ALDH4A1 (I100T +1 more)	Single nucleotide variant (missense variant)	Hyperprolinemia type 2	GUncertain significance
Select item 2138817	NM_003748.4(ALDH4A1):c.684C>T (p.Asn228=)	ALDH4A1	Single nucleotide variant (synonymous variant)	Hyperprolinemia type 2	GLikely benign
Select item 2110375	NM_003748.4(ALDH4A1):c.514T>C (p.Phe172Leu)	ALDH4A1 (F172L +1 more)	Single nucleotide variant (missense variant)	Hyperprolinemia type 2	GUncertain significance
Select item 2099481	NM_003748.4(ALDH4A1):c.156+6G>A	ALDH4A1	Single nucleotide variant (intron variant)	Hyperprolinemia type 2	GUncertain significance
Select item 2090869	NM_003748.4(ALDH4A1):c.1265A>G (p.Asp422Gly)	ALDH4A1 (D362G +1 more)	Single nucleotide variant (missense variant +1 more)	Hyperprolinemia type 2	GUncertain significance
Select item 2089034	NM_003748.4(ALDH4A1):c.615G>C (p.Ala205=)	ALDH4A1	Single nucleotide variant (synonymous variant)	Hyperprolinemia type 2	GLikely benign
Select item 2082273	NM_003748.4(ALDH4A1):c.1338+19C>T	ALDH4A1	Single nucleotide variant (intron variant)	Hyperprolinemia type 2	GLikely benign
Select item 2079565	NM_003748.4(ALDH4A1):c.1134C>T (p.Gly378=)	ALDH4A1	Single nucleotide variant (synonymous variant)	Hyperprolinemia type 2	GUncertain significance
Select item 2051174	NM_003748.4(ALDH4A1):c.1547G>A (p.Gly516Asp)	ALDH4A1 (G516D +2 more)	Single nucleotide variant (missense variant)	Hyperprolinemia type 2	GUncertain significance
Select item 2006046	NM_003748.4(ALDH4A1):c.239A>G (p.Tyr80Cys)	ALDH4A1 (Y80C +1 more)	Single nucleotide variant (missense variant)	Hyperprolinemia type 2	GUncertain significance
Select item 1985618	NM_003748.4(ALDH4A1):c.940+16C>T	ALDH4A1	Single nucleotide variant (intron variant)	Hyperprolinemia type 2	GLikely benign
Select item 1980634	NM_003748.4(ALDH4A1):c.1299C>T (p.Ile433=)	ALDH4A1	Single nucleotide variant (synonymous variant +1 more)	Hyperprolinemia type 2	GLikely benign
Select item 1974330	NM_003748.4(ALDH4A1):c.1239C>T (p.Leu413=)	ALDH4A1	Single nucleotide variant (synonymous variant +1 more)	Hyperprolinemia type 2	GLikely benign
Select item 1959256	NM_003748.4(ALDH4A1):c.1005G>T (p.Gly335=)	ALDH4A1	Single nucleotide variant (synonymous variant)	Hyperprolinemia type 2	GLikely benign
Select item 1945790	NM_003748.4(ALDH4A1):c.43C>T (p.Arg15Cys)	ALDH4A1, LOC129929550 (R15C)	Single nucleotide variant (missense variant)	Hyperprolinemia type 2	GUncertain significance
Select item 1944795	NM_003748.4(ALDH4A1):c.1085C>A (p.Pro362Gln)	ALDH4A1 (P362Q +1 more)	Single nucleotide variant (missense variant)	Hyperprolinemia type 2	GUncertain significance
Select item 1924775	NM_003748.4(ALDH4A1):c.1479C>T (p.Ala493=)	ALDH4A1	Single nucleotide variant (synonymous variant)	Hyperprolinemia type 2	GLikely benign
Select item 1899844	NM_003748.4(ALDH4A1):c.42C>G (p.Ser14=)	ALDH4A1, LOC129929550	Single nucleotide variant (synonymous variant)	Hyperprolinemia type 2	GLikely benign
Select item 1898869	NM_003748.4(ALDH4A1):c.1602C>T (p.Gly534=)	ALDH4A1	Single nucleotide variant (synonymous variant)	Hyperprolinemia type 2	GLikely benign
Select item 1809608	NM_003748.4(ALDH4A1):c.363_370dup (p.Arg124fs)	ALDH4A1 (R124fs +1 more)	Duplication (frameshift variant)	Hyperprolinemia type 2	GLikely pathogenic
Select item 1664643	NM_003748.4(ALDH4A1):c.492G>A (p.Ala164=)	ALDH4A1	Single nucleotide variant (synonymous variant)	Hyperprolinemia type 2	GLikely benign
Select item 1663218	NM_003748.4(ALDH4A1):c.453+17C>T	ALDH4A1	Single nucleotide variant (intron variant)	Hyperprolinemia type 2	GLikely benign
Select item 1652771	NM_003748.4(ALDH4A1):c.1137+12C>T	ALDH4A1	Single nucleotide variant (intron variant)	Hyperprolinemia type 2	GLikely benign
Select item 1644871	NM_003748.4(ALDH4A1):c.1023C>T (p.Phe341=)	ALDH4A1	Single nucleotide variant (synonymous variant)	Hyperprolinemia type 2	GLikely benign
Select item 1640298	NM_003748.4(ALDH4A1):c.693A>G (p.Leu231=)	ALDH4A1	Single nucleotide variant (synonymous variant)	Hyperprolinemia type 2	GLikely benign
Select item 1628506	NM_003748.4(ALDH4A1):c.462C>T (p.Thr154=)	ALDH4A1	Single nucleotide variant (synonymous variant)	Hyperprolinemia type 2	GLikely benign
Select item 1623870	NM_003748.4(ALDH4A1):c.1138-6C>T	ALDH4A1	Single nucleotide variant (intron variant)	Hyperprolinemia type 2	GLikely benign
Select item 1610219	NM_003748.4(ALDH4A1):c.945C>T (p.Cys315=)	ALDH4A1	Single nucleotide variant (synonymous variant)	Hyperprolinemia type 2	GLikely benign
Select item 1602797	NM_003748.4(ALDH4A1):c.1138-20G>A	ALDH4A1	Single nucleotide variant (intron variant)	Hyperprolinemia type 2	GLikely benign
Select item 1594998	NM_003748.4(ALDH4A1):c.432C>T (p.Leu144=)	ALDH4A1	Single nucleotide variant (synonymous variant)	Hyperprolinemia type 2	GLikely benign
Select item 1579580	NM_003748.4(ALDH4A1):c.453+19C>T	ALDH4A1	Single nucleotide variant (intron variant)	Hyperprolinemia type 2	GLikely benign
Select item 1579332	NM_003748.4(ALDH4A1):c.699G>A (p.Lys233=)	ALDH4A1	Single nucleotide variant (synonymous variant)	Hyperprolinemia type 2	GLikely benign
Select item 1575374	NM_003748.4(ALDH4A1):c.1338+7G>A	ALDH4A1	Single nucleotide variant (intron variant)	Hyperprolinemia type 2	GLikely benign
Select item 1573633	NM_003748.4(ALDH4A1):c.501C>T (p.Ile167=)	ALDH4A1	Single nucleotide variant (synonymous variant)	Hyperprolinemia type 2	GLikely benign
Select item 1569367	NM_003748.4(ALDH4A1):c.385C>T (p.Leu129=)	ALDH4A1	Single nucleotide variant (synonymous variant)	Hyperprolinemia type 2	GLikely benign
Select item 1567247	NM_003748.4(ALDH4A1):c.1461-12T>C	ALDH4A1	Single nucleotide variant (intron variant)	Hyperprolinemia type 2	GLikely benign
Select item 1566416	NM_003748.4(ALDH4A1):c.454-18C>T	ALDH4A1	Single nucleotide variant (intron variant)	Hyperprolinemia type 2	GLikely benign
Select item 1561002	NM_003748.4(ALDH4A1):c.1053C>T (p.Cys351=)	ALDH4A1	Single nucleotide variant (synonymous variant)	Hyperprolinemia type 2	GLikely benign
Select item 1556168	NM_003748.4(ALDH4A1):c.1579+11C>T	ALDH4A1	Single nucleotide variant (intron variant)	Hyperprolinemia type 2	GLikely benign
Select item 1554458	NM_003748.4(ALDH4A1):c.1580-16del	ALDH4A1	Deletion (intron variant)	Hyperprolinemia type 2	GLikely benign
Select item 1537452	NM_003748.4(ALDH4A1):c.453+20G>T	ALDH4A1	Single nucleotide variant (intron variant)	Hyperprolinemia type 2	GLikely benign
Select item 1526027	NM_003748.4(ALDH4A1):c.72del (p.Arg23_Trp24insTer)	ALDH4A1	Deletion (5 prime UTR variant +1 more)	Hyperprolinemia type 2	GPathogenic
Select item 1521672	NM_003748.4(ALDH4A1):c.1596del (p.Gly534fs)	ALDH4A1 (G483fs +2 more)	Deletion (frameshift variant)	Hyperprolinemia type 2	GUncertain significance
Select item 1507387	NM_003748.4(ALDH4A1):c.361A>G (p.Ile121Val)	ALDH4A1 (I61V +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1505012	NM_003748.4(ALDH4A1):c.1314C>A (p.Asp438Glu)	ALDH4A1 (D378E +1 more)	Single nucleotide variant (missense variant +1 more)	Hyperprolinemia type 2	GUncertain significance
Select item 1504898	NM_003748.4(ALDH4A1):c.1185+4C>T	ALDH4A1	Single nucleotide variant (intron variant)	Hyperprolinemia type 2	GUncertain significance
Select item 1504729	NM_003748.4(ALDH4A1):c.208G>A (p.Asp70Asn)	ALDH4A1 (D70N +1 more)	Single nucleotide variant (missense variant)	Hyperprolinemia type 2 +1 more	GUncertain significance
Select item 1486823	NM_003748.4(ALDH4A1):c.341A>C (p.Lys114Thr)	ALDH4A1 (K54T +1 more)	Single nucleotide variant (missense variant)	Hyperprolinemia type 2	GUncertain significance
Select item 1481357	NM_003748.4(ALDH4A1):c.1240A>G (p.Thr414Ala)	ALDH4A1 (T414A +1 more)	Single nucleotide variant (missense variant +1 more)	Hyperprolinemia type 2	GUncertain significance
Select item 1477498	NM_003748.4(ALDH4A1):c.593G>A (p.Arg198Gln)	ALDH4A1 (R138Q +1 more)	Single nucleotide variant (missense variant)	Hyperprolinemia type 2	GUncertain significance
Select item 1475616	NM_003748.4(ALDH4A1):c.739C>T (p.Arg247Cys)	ALDH4A1 (R247C +1 more)	Single nucleotide variant (missense variant)	Hyperprolinemia type 2 +1 more	GUncertain significance
Select item 1470647	NM_003748.4(ALDH4A1):c.659C>T (p.Ala220Val)	ALDH4A1 (A160V +1 more)	Single nucleotide variant (missense variant)	Hyperprolinemia type 2	GUncertain significance
Select item 1409516	NM_003748.4(ALDH4A1):c.1529C>G (p.Ser510Cys)	ALDH4A1 (S450C +2 more)	Single nucleotide variant (missense variant)	Hyperprolinemia type 2 +1 more	GUncertain significance
Select item 1400040	NM_003748.4(ALDH4A1):c.12_17del (p.4PA[1])	ALDH4A1, LOC129929550	Deletion (inframe_deletion)	Hyperprolinemia type 2	GUncertain significance
Select item 1399400	NM_003748.4(ALDH4A1):c.43C>G (p.Arg15Gly)	ALDH4A1, LOC129929550 (R15G)	Single nucleotide variant (missense variant)	Hyperprolinemia type 2	GUncertain significance
Select item 1394662	NM_003748.4(ALDH4A1):c.67C>T (p.Arg23Trp)	ALDH4A1 (R23W)	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperprolinemia type 2 +1 more	GUncertain significance
Select item 1393928	NM_003748.4(ALDH4A1):c.178C>T (p.Arg60Trp)	ALDH4A1 (R60W)	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperprolinemia type 2	GUncertain significance
Select item 1390402	NM_003748.4(ALDH4A1):c.557T>C (p.Ile186Thr)	ALDH4A1 (I186T +1 more)	Single nucleotide variant (missense variant)	Hyperprolinemia type 2	GUncertain significance
Select item 1385126	NM_003748.4(ALDH4A1):c.759C>T (p.Gly253=)	ALDH4A1	Single nucleotide variant (synonymous variant)	Hyperprolinemia type 2	GUncertain significance
Select item 1378145	NM_003748.4(ALDH4A1):c.1435A>T (p.Thr479Ser)	ALDH4A1, LOC120893116 (T428S +2 more)	Single nucleotide variant (missense variant)	Hyperprolinemia type 2	GUncertain significance
Select item 1364510	NM_003748.4(ALDH4A1):c.749G>A (p.Arg250Gln)	ALDH4A1 (R190Q +1 more)	Single nucleotide variant (missense variant)	Hyperprolinemia type 2	GUncertain significance
Select item 1334961	NM_003748.4(ALDH4A1):c.1650A>G (p.Thr550=)	ALDH4A1	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1333353	NM_003748.4(ALDH4A1):c.139C>T (p.Arg47Ter)	ALDH4A1 (R47*)	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperprolinemia type 2	GPathogenic/Likely pathogenic
Select item 1327825	NM_003748.4(ALDH4A1):c.740G>A (p.Arg247His)	ALDH4A1 (R187H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1188912	NM_003748.4(ALDH4A1):c.249+22A>G	ALDH4A1	Single nucleotide variant (intron variant)	Hyperprolinemia type 2	GBenign
Select item 1188911	NM_003748.4(ALDH4A1):c.678+75T>C	ALDH4A1	Single nucleotide variant (intron variant)	Hyperprolinemia type 2	GBenign

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