DGCR6[gene] and "single gene"[properties] - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2619122	NM_005675.6(DGCR6):c.11A>G (p.Tyr4Cys)	DGCR6 (Y4C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 779194	NM_005675.6(DGCR6):c.24G>A (p.Leu8=)	DGCR6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3271689	NM_005675.6(DGCR6):c.40G>A (p.Gly14Ser)	DGCR6 (G14S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2652848	NM_005675.6(DGCR6):c.72G>C (p.Leu24=)	DGCR6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2287914	NM_005675.6(DGCR6):c.94G>A (p.Val32Met)	DGCR6 (V32M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463159	NM_005675.6(DGCR6):c.254T>A (p.Leu85Gln)	DGCR6 (L85Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081845	NM_005675.6(DGCR6):c.322C>G (p.Arg108Gly)	DGCR6 (R108G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081846	NM_005675.6(DGCR6):c.323G>A (p.Arg108Gln)	DGCR6 (R108Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081847	NM_005675.6(DGCR6):c.341T>G (p.Val114Gly)	DGCR6 (V114G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3024841	NM_005675.6(DGCR6):c.373-6C>T	DGCR6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3271691	NM_005675.6(DGCR6):c.385C>G (p.Arg129Gly)	DGCR6 (R129G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081848	NM_005675.6(DGCR6):c.386G>A (p.Arg129Gln)	DGCR6 (R129Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601113	NM_005675.6(DGCR6):c.404G>A (p.Arg135Gln)	DGCR6 (R135Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521789	NM_005675.6(DGCR6):c.406G>A (p.Ala136Thr)	DGCR6 (A136T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081849	NM_005675.6(DGCR6):c.407C>T (p.Ala136Val)	DGCR6 (A136V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2652849	NM_005675.6(DGCR6):c.420G>A (p.Lys140=)	DGCR6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2652850	NM_005675.6(DGCR6):c.440G>A (p.Arg147Gln)	DGCR6 (R147Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2221224	NM_005675.6(DGCR6):c.478G>A (p.Gly160Arg)	DGCR6 (G160R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515125	NM_005675.6(DGCR6):c.493T>C (p.Tyr165His)	DGCR6 (Y165H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081850	NM_005675.6(DGCR6):c.497T>G (p.Val166Gly)	DGCR6 (V166G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 634598	NM_005675.6(DGCR6):c.539T>C (p.Leu180Pro)	DGCR6 (L180P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2561484	NM_005675.6(DGCR6):c.602G>A (p.Gly201Glu)	DGCR6 (G201E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081851	NM_005675.6(DGCR6):c.629A>G (p.Gln210Arg)	DGCR6 (Q210R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237760	NM_005675.6(DGCR6):c.629A>T (p.Gln210Leu)	DGCR6 (Q210L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594369	NM_005675.6(DGCR6):c.634G>A (p.Asp212Asn)	DGCR6 (D212N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517644	NM_005675.6(DGCR6):c.644G>C (p.Gly215Ala)	DGCR6 (G215A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271690	NM_005675.6(DGCR6):c.656C>T (p.Pro219Leu)	DGCR6 (P219L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349847	NM_005675.6(DGCR6):c.659C>T (p.Pro220Leu)	DGCR6 (P220L)	Single nucleotide variant (missense variant)	not specified	GLikely benign

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Items: 28