Related gene-specific medical variations for Gene (Select 2585) - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3280512	NM_002044.4(GALK2):c.1202G>A (p.Gly401Glu)	FAM227B, GALK2 (G272E +3 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3092349	NM_152647.3(FAM227B):c.1420C>T (p.Arg474Cys)	FAM227B, GALK2 (R474C +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3092348	NM_152647.3(FAM227B):c.1303A>C (p.Lys435Gln)	FAM227B, GALK2 (K435Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685515	GRCh37/hg19 15q21.1-21.2(chr15:49497932-49563046)x1	GALK2	Copy number loss	not provided	GUncertain significance
Select item 2685514	GRCh37/hg19 15q21.1-21.2(chr15:49477839-49602372)x1	GALK2	Copy number loss	not provided	GUncertain significance
Select item 2617677	NM_152647.3(FAM227B):c.1276C>T (p.Pro426Ser)	FAM227B, GALK2 (P426S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605445	NM_002044.4(GALK2):c.1212G>C (p.Trp404Cys)	FAM227B, GALK2 (W275C +3 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2596827	NM_002044.4(GALK2):c.1279G>A (p.Ala427Thr)	FAM227B, GALK2 (A298T +3 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2488519	NM_002044.4(GALK2):c.1231A>G (p.Met411Val)	FAM227B, GALK2 (M400V +3 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2472979	NM_152647.3(FAM227B):c.1258A>G (p.Ile420Val)	FAM227B, GALK2 (I420V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464123	NM_002044.4(GALK2):c.1238C>T (p.Pro413Leu)	FAM227B, GALK2 (P402L +3 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2363021	NM_152647.3(FAM227B):c.1157A>G (p.Asn386Ser)	FAM227B, GALK2 (N386S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325211	NM_152647.3(FAM227B):c.1291C>T (p.Arg431Cys)	FAM227B, GALK2 (R431C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 980037	GRCh37/hg19 15q21.1-21.2(chr15:49452059-49550863)x1	GALK2	Copy number loss	not provided	GUncertain significance