ClinVar for Gene (Select 57380) - ClinVar

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Links from Gene

Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3296151	NM_020662.4(MRS2):c.538T>C (p.Tyr180His)	MRS2 (Y180H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3296150	NM_020662.4(MRS2):c.542C>T (p.Pro181Leu)	MRS2 (P131L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3296149	NM_020662.4(MRS2):c.674C>T (p.Ser225Phe)	MRS2 (S225F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3296148	NM_020662.4(MRS2):c.1117A>G (p.Ile373Val)	MRS2 (I323V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3296147	NM_020662.4(MRS2):c.1171C>T (p.Arg391Cys)	MRS2 (R394C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3296145	NM_020662.4(MRS2):c.1298T>C (p.Leu433Pro)	MRS2 (L383P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3296144	NM_020662.4(MRS2):c.902G>A (p.Arg301Gln)	MRS2 (R251Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209898	NM_020662.4(MRS2):c.474C>G (p.Asn158Lys)	MRS2 (N108K +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3209892	NM_020662.4(MRS2):c.37C>G (p.Arg13Gly)	MRS2 (R13G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209887	NM_020662.4(MRS2):c.278A>C (p.Lys93Thr)	MRS2 (K93T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3209876	NM_020662.4(MRS2):c.1246C>T (p.Leu416Phe)	MRS2 (L366F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2685197	GRCh37/hg19 6p22.3-22.2(chr6:21704602-26187420)x1	ACOT13, ALDH5A1 +38 more	Copy number loss	not provided	GLikely pathogenic
Select item 2623028	NM_020662.4(MRS2):c.106G>A (p.Val36Ile)	MRS2 (V36I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2515714	NM_020662.4(MRS2):c.1164C>G (p.Ile388Met)	MRS2 (I388M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2475726	NM_020662.4(MRS2):c.1136G>A (p.Gly379Glu)	MRS2 (G329E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2412272	NM_020662.4(MRS2):c.56G>A (p.Arg19Gln)	MRS2 (R19Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2386371	NM_020662.4(MRS2):c.686G>A (p.Ser229Asn)	MRS2 (S179N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2357662	NM_020662.4(MRS2):c.22C>T (p.Pro8Ser)	MRS2 (P8S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2349967	NM_020662.4(MRS2):c.203G>A (p.Arg68Gln)	MRS2 (R68Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333587	NM_020662.4(MRS2):c.203G>C (p.Arg68Pro)	MRS2 (R68P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317206	NM_020662.4(MRS2):c.659A>T (p.Asp220Val)	MRS2 (D170V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2277603	NM_020662.4(MRS2):c.629T>G (p.Leu210Arg)	MRS2 (L210R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2253112	NM_020662.4(MRS2):c.607A>G (p.Lys203Glu)	MRS2 (K203E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2237144	NM_020662.4(MRS2):c.1237A>G (p.Lys413Glu)	MRS2 (K416E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2224913	NM_020662.4(MRS2):c.411G>T (p.Met137Ile)	MRS2 (M137I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2220793	NM_020662.4(MRS2):c.950T>C (p.Ile317Thr)	MRS2 (I320T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2220214	NM_020662.4(MRS2):c.755A>G (p.Lys252Arg)	MRS2 (K202R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1809503	GRCh37/hg19 6p22.3(chr6:24298255-24500515)x3	ALDH5A1, DCDC2 +3 more	Copy number gain	not provided	GUncertain significance
Select item 1511269	NC_000006.11:g.(?_24278257)_(24533940_?)dup	ALDH5A1, DCDC2 +3 more	Duplication	Succinate-semialdehyde dehydrogenase deficiency	GUncertain significance
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 151607	GRCh38/hg38 6p22.3(chr6:24281919-24479832)x1	DCDC2, GPLD1 +5 more	Copy number loss	See cases	GUncertain significance
Select item 150044	GRCh38/hg38 6p25.2-21.33(chr6:3224310-30657190)x3	ABCF1, ABT1 +1340 more	Copy number gain	See cases	GPathogenic
Select item 149747	GRCh38/hg38 6p22.3-22.2(chr6:23252522-25967277)x1	ACOT13, ALDH5A1 +64 more	Copy number loss	See cases	GUncertain significance
Select item 144466	GRCh38/hg38 6p22.3-22.2(chr6:22519454-25226331)x1	ACOT13, ALDH5A1 +50 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 36