Related gene-specific medical variations for Gene (Select 5066) - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3208268	NM_001177306.2(PAM):c.2905G>A (p.Ala969Thr)	LOC126807468, PAM (A795T +16 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3208267	NM_001177306.2(PAM):c.2850A>C (p.Lys950Asn)	LOC126807468, PAM (K775N +16 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3208266	NM_001177306.2(PAM):c.2737T>C (p.Phe913Leu)	LOC126807468, PAM (F738L +13 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3208265	NM_001177306.2(PAM):c.2711C>A (p.Thr904Lys)	LOC126807468, PAM (T730K +13 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2219858	NM_001177306.2(PAM):c.2818C>T (p.Arg940Trp)	LOC126807468, PAM (R797W +16 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2218138	NM_001177306.2(PAM):c.2781T>A (p.Phe927Leu)	LOC126807468, PAM (F770L +16 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 785133	NM_001177306.2(PAM):c.2706C>T (p.Leu902=)	LOC126807468, PAM	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 763278	NM_001177306.2(PAM):c.2712G>A (p.Thr904=)	LOC126807468, PAM	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 760328	NM_001177306.2(PAM):c.2871A>C (p.Ser957=)	LOC126807468, PAM	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign