ALDH4A1[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 294333	NM_003748.4(ALDH4A1):c.*1275A>C	ALDH4A1	Single nucleotide variant (3 prime UTR variant)	Hyperprolinemia type 2	GBenign
Select item 294334	NM_003748.4(ALDH4A1):c.*1239G>C	ALDH4A1	Single nucleotide variant (3 prime UTR variant)	Hyperprolinemia type 2	GBenign
Select item 294335	NM_003748.4(ALDH4A1):c.*1199A>C	ALDH4A1	Single nucleotide variant (3 prime UTR variant)	Hyperprolinemia type 2	GUncertain significance
Select item 294336	NM_003748.4(ALDH4A1):c.*1198A>G	ALDH4A1	Single nucleotide variant (3 prime UTR variant)	Hyperprolinemia type 2	GBenign
Select item 294337	NM_003748.4(ALDH4A1):c.*1197C>G	ALDH4A1	Single nucleotide variant (3 prime UTR variant)	Hyperprolinemia type 2	GUncertain significance
Select item 874208	NM_003748.4(ALDH4A1):c.*1182G>C	ALDH4A1	Single nucleotide variant (3 prime UTR variant)	Hyperprolinemia type 2	GUncertain significance
Select item 294338	NM_003748.4(ALDH4A1):c.*1173C>T	ALDH4A1	Single nucleotide variant (3 prime UTR variant)	Hyperprolinemia type 2	GUncertain significance
Select item 294339	NM_003748.4(ALDH4A1):c.*1152G>T	ALDH4A1	Single nucleotide variant (3 prime UTR variant)	Hyperprolinemia type 2	GUncertain significance
Select item 875131	NM_003748.4(ALDH4A1):c.*1041G>A	ALDH4A1	Single nucleotide variant (3 prime UTR variant +1 more)	Hyperprolinemia type 2	GUncertain significance
Select item 875132	NM_003748.4(ALDH4A1):c.*1040C>T	ALDH4A1	Single nucleotide variant (3 prime UTR variant +1 more)	Hyperprolinemia type 2	GUncertain significance
Select item 294340	NM_003748.4(ALDH4A1):c.*944C>T	ALDH4A1	Single nucleotide variant (3 prime UTR variant +1 more)	Hyperprolinemia type 2	GUncertain significance
Select item 294341	NM_003748.4(ALDH4A1):c.*925C>T	ALDH4A1	Single nucleotide variant (3 prime UTR variant +1 more)	Hyperprolinemia type 2	GBenign
Select item 294342	NM_003748.4(ALDH4A1):c.*921G>A	ALDH4A1	Single nucleotide variant (3 prime UTR variant +1 more)	Hyperprolinemia type 2	GBenign
Select item 294343	NM_003748.4(ALDH4A1):c.*903C>T	ALDH4A1	Single nucleotide variant (3 prime UTR variant +1 more)	Hyperprolinemia type 2	GLikely benign
Select item 876092	NM_003748.4(ALDH4A1):c.*900G>C	ALDH4A1	Single nucleotide variant (3 prime UTR variant +1 more)	Hyperprolinemia type 2	GUncertain significance
Select item 876093	NM_003748.4(ALDH4A1):c.*776C>T	ALDH4A1	Single nucleotide variant (3 prime UTR variant +1 more)	Hyperprolinemia type 2	GUncertain significance
Select item 294344	NM_003748.4(ALDH4A1):c.*763T>C	ALDH4A1	Single nucleotide variant (3 prime UTR variant +1 more)	Hyperprolinemia type 2	GBenign
Select item 294345	NM_003748.4(ALDH4A1):c.*719C>T	ALDH4A1	Single nucleotide variant (3 prime UTR variant +1 more)	Hyperprolinemia type 2	GUncertain significance
Select item 294346	NM_003748.4(ALDH4A1):c.*712C>T	ALDH4A1	Single nucleotide variant (3 prime UTR variant +1 more)	Hyperprolinemia type 2	GBenign
Select item 876094	NM_003748.4(ALDH4A1):c.*711C>G	ALDH4A1	Single nucleotide variant (3 prime UTR variant +1 more)	Hyperprolinemia type 2	GUncertain significance
Select item 294347	NM_003748.4(ALDH4A1):c.*702C>T	ALDH4A1	Single nucleotide variant (3 prime UTR variant +1 more)	Hyperprolinemia type 2	GBenign
Select item 294348	NM_003748.4(ALDH4A1):c.*690G>A	ALDH4A1	Single nucleotide variant (3 prime UTR variant +1 more)	Hyperprolinemia type 2	GUncertain significance
Select item 294349	NM_003748.4(ALDH4A1):c.*657del	ALDH4A1	Deletion (3 prime UTR variant +1 more)	Hyperprolinemia	GLikely benign
Select item 294350	NM_003748.4(ALDH4A1):c.*646G>A	ALDH4A1	Single nucleotide variant (3 prime UTR variant +1 more)	Hyperprolinemia type 2	GUncertain significance
Select item 294351	NM_003748.4(ALDH4A1):c.*502A>G	ALDH4A1	Single nucleotide variant (3 prime UTR variant +1 more)	Hyperprolinemia type 2	GBenign
Select item 294352	NM_003748.4(ALDH4A1):c.*464G>A	ALDH4A1	Single nucleotide variant (3 prime UTR variant +1 more)	Hyperprolinemia type 2	GUncertain significance
Select item 294353	NM_003748.4(ALDH4A1):c.*444T>C	ALDH4A1	Single nucleotide variant (3 prime UTR variant +1 more)	Hyperprolinemia type 2	GBenign
Select item 877047	NM_003748.4(ALDH4A1):c.*367C>T	ALDH4A1	Single nucleotide variant (3 prime UTR variant +1 more)	Hyperprolinemia type 2	GUncertain significance
Select item 294354	NM_003748.4(ALDH4A1):c.*272C>T	ALDH4A1	Single nucleotide variant (3 prime UTR variant +1 more)	Hyperprolinemia type 2	GUncertain significance
Select item 294355	NM_003748.4(ALDH4A1):c.*223G>A	ALDH4A1	Single nucleotide variant (3 prime UTR variant +1 more)	Hyperprolinemia type 2	GUncertain significance
Select item 294356	NM_003748.4(ALDH4A1):c.*210C>A	ALDH4A1	Single nucleotide variant (3 prime UTR variant +1 more)	Hyperprolinemia type 2	GUncertain significance
Select item 294357	NM_003748.4(ALDH4A1):c.*189G>A	ALDH4A1	Single nucleotide variant (3 prime UTR variant +1 more)	Hyperprolinemia type 2	GUncertain significance
Select item 294358	NM_003748.4(ALDH4A1):c.*122T>C	ALDH4A1	Single nucleotide variant (3 prime UTR variant +1 more)	Hyperprolinemia type 2	GUncertain significance
Select item 294359	NM_003748.4(ALDH4A1):c.*118G>A	ALDH4A1	Single nucleotide variant (3 prime UTR variant +1 more)	Hyperprolinemia type 2	GBenign
Select item 294360	NM_003748.4(ALDH4A1):c.*35C>T	ALDH4A1	Single nucleotide variant (3 prime UTR variant)	Hyperprolinemia type 2	GLikely benign
Select item 874262	NM_003748.4(ALDH4A1):c.*19C>T	ALDH4A1	Single nucleotide variant (3 prime UTR variant)	Hyperprolinemia type 2	GUncertain significance
Select item 294361	NM_003748.4(ALDH4A1):c.*12del	ALDH4A1	Deletion (3 prime UTR variant)	Hyperprolinemia	GUncertain significance
Select item 3052513	NM_003748.4(ALDH4A1):c.*10G>T	ALDH4A1	Single nucleotide variant (3 prime UTR variant)	ALDH4A1-related disorder	GLikely benign
Select item 294362	NM_003748.4(ALDH4A1):c.*9C>T	ALDH4A1	Single nucleotide variant (3 prime UTR variant)	Hyperprolinemia type 2	GUncertain significance
Select item 294363	NM_003748.4(ALDH4A1):c.1681T>A (p.Tyr561Asn)	ALDH4A1 (Y561N +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2268275	NM_003748.4(ALDH4A1):c.1678G>T (p.Ala560Ser)	ALDH4A1 (A560S +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 875189	NM_003748.4(ALDH4A1):c.1678G>A (p.Ala560Thr)	ALDH4A1 (A500T +2 more)	Single nucleotide variant (missense variant)	Hyperprolinemia type 2	GUncertain significance
Select item 976550	NM_003748.4(ALDH4A1):c.1677C>T (p.Tyr559=)	ALDH4A1	Single nucleotide variant (synonymous variant)	Hyperprolinemia type 2	GLikely benign
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 1334961	NM_003748.4(ALDH4A1):c.1650A>G (p.Thr550=)	ALDH4A1	Single nucleotide variant (synonymous variant)	not provided +2 more	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 875190	NM_003748.4(ALDH4A1):c.1632G>A (p.Pro544=)	ALDH4A1	Single nucleotide variant (synonymous variant)	Hyperprolinemia type 2	GUncertain significance
Select item 294364	NM_003748.4(ALDH4A1):c.1631C>T (p.Pro544Leu)	ALDH4A1 (P544L +2 more)	Single nucleotide variant (missense variant)	Hyperprolinemia type 2	GBenign/Likely benign
Select item 655344	NM_003748.4(ALDH4A1):c.1625C>T (p.Thr542Met)	ALDH4A1 (T482M +2 more)	Single nucleotide variant (missense variant)	Hyperprolinemia type 2	GUncertain significance
Select item 875191	NM_003748.4(ALDH4A1):c.1624A>G (p.Thr542Ala)	ALDH4A1 (T542A +2 more)	Single nucleotide variant (missense variant)	Hyperprolinemia type 2	GUncertain significance
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 1898869	NM_003748.4(ALDH4A1):c.1602C>T (p.Gly534=)	ALDH4A1	Single nucleotide variant (synonymous variant)	Hyperprolinemia type 2	GLikely benign
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 471329	NM_003748.4(ALDH4A1):c.1583C>A (p.Thr528Asn)	ALDH4A1 (T528N +2 more)	Single nucleotide variant (missense variant)	Hyperprolinemia type 2	GConflicting classifications of pathogenicity
Select item 875192	NM_003748.4(ALDH4A1):c.1580-5C>T	ALDH4A1	Single nucleotide variant (intron variant)	Hyperprolinemia type 2	GUncertain significance
Select item 1554458	NM_003748.4(ALDH4A1):c.1580-16del	ALDH4A1	Deletion (intron variant)	Hyperprolinemia type 2	GLikely benign
Select item 1188868	NM_003748.4(ALDH4A1):c.1580-22A>T	ALDH4A1	Single nucleotide variant (intron variant)	Hyperprolinemia type 2	GBenign
Select item 1188869	NM_003748.4(ALDH4A1):c.1579+49C>G	ALDH4A1	Single nucleotide variant (intron variant)	Hyperprolinemia type 2	GBenign
Select item 1556168	NM_003748.4(ALDH4A1):c.1579+11C>T	ALDH4A1	Single nucleotide variant (intron variant)	Hyperprolinemia type 2	GLikely benign
Select item 813795	NM_003748.4(ALDH4A1):c.1571G>A (p.Arg524Gln)	ALDH4A1 (R473Q +2 more)	Single nucleotide variant (missense variant)	Hyperprolinemia type 2	GUncertain significance
Select item 2627268	NM_003748.4(ALDH4A1):c.1567del (p.Ala523fs)	ALDH4A1 (A463fs +2 more)	Deletion (frameshift variant)	not specified	GUncertain significance
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 4002	NM_003748.4(ALDH4A1):c.1560dup (p.Gly521fs)	ALDH4A1 (G521fs +2 more)	Duplication (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
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 294365	NM_003748.4(ALDH4A1):c.1548C>T (p.Gly516=)	ALDH4A1	Single nucleotide variant (synonymous variant)	Hyperprolinemia type 2	GBenign
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 1409516	NM_003748.4(ALDH4A1):c.1529C>G (p.Ser510Cys)	ALDH4A1 (S450C +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 772676	NM_003748.4(ALDH4A1):c.1521C>T (p.Asn507=)	ALDH4A1	Single nucleotide variant (synonymous variant)	Hyperprolinemia type 2	GLikely benign
Select item 2581184	NM_003748.4(ALDH4A1):c.1505G>A (p.Gly502Asp)	ALDH4A1 (G442D +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1004782	NM_003748.4(ALDH4A1):c.1504G>A (p.Gly502Ser)	ALDH4A1 (G442S +2 more)	Single nucleotide variant (missense variant)	Hyperprolinemia type 2	GUncertain significance
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 3031069	NM_003748.4(ALDH4A1):c.1488G>A (p.Val496=)	ALDH4A1	Single nucleotide variant (synonymous variant)	ALDH4A1-related disorder	GLikely benign
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 3109661	NM_003748.4(ALDH4A1):c.1468G>T (p.Val490Leu)	ALDH4A1 (V439L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 697628	NM_003748.4(ALDH4A1):c.1467C>G (p.Val489=)	ALDH4A1	Single nucleotide variant (synonymous variant)	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 1567247	NM_003748.4(ALDH4A1):c.1461-12T>C	ALDH4A1	Single nucleotide variant (intron variant)	Hyperprolinemia type 2	GLikely benign
Select item 1188870	NM_003748.4(ALDH4A1):c.1461-109C>T	ALDH4A1	Single nucleotide variant (intron variant)	Hyperprolinemia type 2	GBenign
Select item 1188871	NM_003748.4(ALDH4A1):c.1461-137dup	ALDH4A1	Duplication (intron variant)	Hyperprolinemia type 2	GBenign
Select item 1188872	NM_003748.4(ALDH4A1):c.1338+39A>G	ALDH4A1	Single nucleotide variant (intron variant)	Hyperprolinemia type 2	GBenign
Select item 2082273	NM_003748.4(ALDH4A1):c.1338+19C>T	ALDH4A1	Single nucleotide variant (intron 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 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 1305276	NM_003748.4(ALDH4A1):c.1300G>T (p.Val434Leu)	ALDH4A1 (V374L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 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 471327	NM_003748.4(ALDH4A1):c.1272C>T (p.Ser424=)	ALDH4A1	Single nucleotide variant (synonymous variant +1 more)	Hyperprolinemia type 2	GLikely benign
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 294372	NM_003748.4(ALDH4A1):c.1261T>C (p.Cys421Arg)	ALDH4A1 (C421R +1 more)	Single nucleotide variant (missense variant +1 more)	Hyperprolinemia type 2 +2 more	GConflicting classifications of pathogenicity
Select item 294373	NM_003748.4(ALDH4A1):c.1252G>C (p.Gly418Arg)	ALDH4A1 (G418R +1 more)	Single nucleotide variant (missense variant +1 more)	Hyperprolinemia type 2	GUncertain significance
Select item 294374	NM_003748.4(ALDH4A1):c.1251C>T (p.Ala417=)	ALDH4A1	Single nucleotide variant (synonymous variant +1 more)	Hyperprolinemia type 2 +1 more	GBenign
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 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 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 648386	NM_003748.4(ALDH4A1):c.1236C>G (p.Ser412Arg)	ALDH4A1 (S352R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 294375	NM_003748.4(ALDH4A1):c.1230A>G (p.Ser410=)	ALDH4A1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 2236871	NM_003748.4(ALDH4A1):c.1222C>T (p.Arg408Cys)	ALDH4A1 (R348C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 294376	NM_003748.4(ALDH4A1):c.1221A>G (p.Ala407=)	ALDH4A1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
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 702171	NM_003748.4(ALDH4A1):c.1218C>T (p.His406=)	ALDH4A1	Single nucleotide variant (synonymous variant +1 more)	Hyperprolinemia type 2	GConflicting classifications of pathogenicity

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