Related gene-specific medical variations for Gene (Select 51306) - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3091853	NM_001385994.1(FAM13B):c.1661G>A (p.Arg554His)	FAM13B, LOC129389374 (R272H +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3091852	NM_001385994.1(FAM13B):c.1612T>C (p.Cys538Arg)	FAM13B, LOC129389374 (C274R +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2526465	NM_001385994.1(FAM13B):c.2696C>T (p.Ala899Val)	FAM13B, PKD2L2 (A617V +16 more)	Single nucleotide variant (3 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 2518596	NM_001385994.1(FAM13B):c.1660C>T (p.Arg554Cys)	FAM13B, LOC129389374 (R272C +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2410728	NM_001385994.1(FAM13B):c.1587G>T (p.Met529Ile)	FAM13B, LOC129389374 (M477I +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2390288	NM_001385994.1(FAM13B):c.1553G>A (p.Gly518Glu)	FAM13B, LOC129389374 (G236E +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2297381	NM_001385994.1(FAM13B):c.1594C>T (p.His532Tyr)	FAM13B, LOC129389374 (H414Y +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2293262	NM_001300921.2(PKD2L2):c.*18-2248A>C	FAM13B, PKD2L2 (K611Q)	Single nucleotide variant (3 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 2209844	NM_001385994.1(FAM13B):c.1634G>A (p.Arg545His)	FAM13B, LOC129389374 (R263H +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance