Related gene-specific medical variations for Gene (Select 8659) - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3360664	NM_003748.4(ALDH4A1):c.1326del (p.Ile443fs)	ALDH4A1 (I383fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
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 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 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 2638408	NM_003748.4(ALDH4A1):c.12G>T (p.Pro4=)	ALDH4A1, LOC129929550	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2582852	NM_003748.4(ALDH4A1):c.1347C>T (p.Phe449=)	ALDH4A1, LOC120893116	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2523703	NM_003748.4(ALDH4A1):c.25C>T (p.Arg9Cys)	ALDH4A1, LOC129929550 (R9C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480469	NM_003748.4(ALDH4A1):c.1390A>G (p.Lys464Glu)	ALDH4A1, LOC120893116 (K464E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250568	NM_003748.4(ALDH4A1):c.44G>A (p.Arg15His)	ALDH4A1, LOC129929550 (R15H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 1899844	NM_003748.4(ALDH4A1):c.42C>G (p.Ser14=)	ALDH4A1, LOC129929550	Single nucleotide variant (synonymous variant)	Hyperprolinemia type 2	GLikely benign
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 1378145	NM_003748.4(ALDH4A1):c.1435A>T (p.Thr479Ser)	LOC120893116, ALDH4A1 (T428S +2 more)	Single nucleotide variant (missense variant)	Hyperprolinemia type 2	GUncertain significance
Select item 975483	NM_003748.4(ALDH4A1):c.103G>A (p.Glu35Lys)	ALDH4A1 (E35K)	Single nucleotide variant (5 prime UTR variant +1 more)	Intellectual disability	GLikely benign
Select item 975482	NM_003748.4(ALDH4A1):c.499A>T (p.Ile167Phe)	ALDH4A1 (I107F +1 more)	Single nucleotide variant (missense variant)	Intellectual disability	GLikely benign
Select item 975481	NM_003748.4(ALDH4A1):c.463G>A (p.Val155Met)	ALDH4A1 (V155M +1 more)	Single nucleotide variant (missense variant)	Intellectual disability	GLikely benign
Select item 975479	NM_003748.4(ALDH4A1):c.1376C>T (p.Pro459Leu)	ALDH4A1, LOC120893116 (P399L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 971226	NM_003748.4(ALDH4A1):c.1348G>A (p.Gly450Arg)	ALDH4A1, LOC120893116 (G390R +2 more)	Single nucleotide variant (missense variant)	Hyperprolinemia type 2	GUncertain significance
Select item 876209	NM_003748.4(ALDH4A1):c.603+14G>A	ALDH4A1, MIR4695	Single nucleotide variant (non-coding transcript variant +1 more)	Hyperprolinemia type 2 +1 more	GBenign/Likely benign
Select item 876152	NM_003748.4(ALDH4A1):c.1460+15C>T	ALDH4A1, LOC120893116	Single nucleotide variant (intron variant)	Hyperprolinemia type 2 +1 more	GConflicting classifications of pathogenicity
Select item 864586	NM_003748.4(ALDH4A1):c.59C>A (p.Ala20Asp)	ALDH4A1, LOC129929550 (A20D)	Single nucleotide variant (missense variant)	Hyperprolinemia type 2	GUncertain significance
Select item 846391	NM_003748.4(ALDH4A1):c.16C>T (p.Pro6Ser)	ALDH4A1, LOC129929550 (P6S)	Single nucleotide variant (missense variant)	Hyperprolinemia type 2	GUncertain significance
Select item 703507	NM_003748.4(ALDH4A1):c.1385A>C (p.Lys462Thr)	ALDH4A1, LOC120893116 (K411T +2 more)	Single nucleotide variant (missense variant)	Hyperprolinemia type 2	GLikely benign
Select item 471330	NM_003748.4(ALDH4A1):c.47C>T (p.Pro16Leu)	ALDH4A1, LOC129929550 (P16L)	Single nucleotide variant (missense variant)	Hyperprolinemia type 2 +1 more	GBenign/Likely benign
Select item 471328	NM_003748.4(ALDH4A1):c.1439G>A (p.Gly480Glu)	ALDH4A1, LOC120893116 (G480E +2 more)	Single nucleotide variant (missense variant)	Hyperprolinemia type 2	GUncertain significance
Select item 294396	NM_003748.4(ALDH4A1):c.-7A>G	ALDH4A1, LOC129929550	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GLikely benign
Select item 294395	NM_003748.4(ALDH4A1):c.-4C>A	ALDH4A1, LOC129929550	Single nucleotide variant (5 prime UTR variant)	Hyperprolinemia type 2 +1 more	GLikely benign
Select item 294371	NM_003748.4(ALDH4A1):c.1369G>A (p.Val457Ile)	ALDH4A1, LOC120893116 (V457I +2 more)	Single nucleotide variant (missense variant)	Hyperprolinemia type 2	GUncertain significance
Select item 294370	NM_003748.4(ALDH4A1):c.1377G>C (p.Pro459=)	ALDH4A1, LOC120893116	Single nucleotide variant (synonymous variant)	Hyperprolinemia type 2	GConflicting classifications of pathogenicity
Select item 294369	NM_003748.4(ALDH4A1):c.1380T>C (p.Asp460=)	ALDH4A1, LOC120893116	Single nucleotide variant (synonymous variant)	Hyperprolinemia type 2 +1 more	GBenign
Select item 294368	NM_003748.4(ALDH4A1):c.1381G>A (p.Asp461Asn)	ALDH4A1, LOC120893116 (D461N +2 more)	Single nucleotide variant (missense variant)	Hyperprolinemia type 2	GUncertain significance
Select item 294367	NM_003748.4(ALDH4A1):c.1408G>A (p.Val470Ile)	ALDH4A1, LOC120893116 (V470I +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 294366	NM_003748.4(ALDH4A1):c.1417A>G (p.Thr473Ala)	ALDH4A1, LOC120893116 (T473A +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 4004	NM_003748.4(ALDH4A1):c.21del (p.Leu8fs)	ALDH4A1, LOC129929550 (L8fs)	Deletion (frameshift variant)	not provided +1 more	GLikely pathogenic

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Items: 38