Related gene-specific medical variations for Gene (Select 55643) - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3262010	NM_017797.4(BTBD2):c.185C>A (p.Pro62Gln)	BTBD2, LOC130063010 (P62Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262008	NM_017797.4(BTBD2):c.391C>T (p.Arg131Cys)	BTBD2, LOC130063009 (R131C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135419	NM_017797.4(BTBD2):c.251G>C (p.Gly84Ala)	BTBD2, LOC130063010 (G84A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2648958	NM_017797.4(BTBD2):c.195C>T (p.Pro65=)	BTBD2, LOC130063010	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2569142	NM_017797.4(BTBD2):c.301C>T (p.Pro101Ser)	BTBD2, LOC130063010 (P101S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547207	NM_017797.4(BTBD2):c.272A>T (p.Glu91Val)	BTBD2, LOC130063010 (E91V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538633	NM_017797.4(BTBD2):c.253G>A (p.Ala85Thr)	BTBD2, LOC130063010 (A85T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474648	NM_017797.4(BTBD2):c.236A>C (p.Glu79Ala)	BTBD2, LOC130063010 (E79A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467343	NM_017797.4(BTBD2):c.268C>T (p.Arg90Cys)	BTBD2, LOC130063010 (R90C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325145	NM_017797.4(BTBD2):c.273G>C (p.Glu91Asp)	BTBD2, LOC130063010 (E91D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246273	NM_017797.4(BTBD2):c.242C>T (p.Ala81Val)	BTBD2, LOC130063010 (A81V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance