Related gene-specific medical variations for Gene (Select 51282) - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3158229	NM_033630.3(SCAND1):c.241G>C (p.Val81Leu)	LOC130065771, SCAND1 (V81L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3158226	NM_033630.3(SCAND1):c.44C>T (p.Ala15Val)	LOC130065772, SCAND1 (A15V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158225	NM_033630.3(SCAND1):c.-78C>T	CNBD2, LOC130065772 +1 more	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 3158224	NM_033630.3(SCAND1):c.-78C>G	CNBD2, LOC130065772 +1 more	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 2519983	NM_033630.3(SCAND1):c.223C>T (p.Pro75Ser)	LOC130065771, SCAND1 (P75S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516260	NM_033630.3(SCAND1):c.224C>T (p.Pro75Leu)	LOC130065771, SCAND1 (P75L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341542	NM_033630.2(SCAND1):c.20G>A (p.Arg7Lys)	CNBD2, LOC130065773 +1 more (R7K)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2281343	NM_033630.3(SCAND1):c.196G>C (p.Ala66Pro)	LOC130065771, SCAND1 (A66P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278039	NM_033630.2(SCAND1):c.46A>G (p.Ser16Gly)	CNBD2, SCAND1 (S16G)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2240181	NM_033630.3(SCAND1):c.239C>T (p.Pro80Leu)	LOC130065771, SCAND1 (P80L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance