"Ambry Genetics"[submitter] AND "LOC130056986"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3161676	NM_138356.3(SHF):c.302C>T (p.Pro101Leu)	LOC130056986, SHF (P101L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2229776	NM_138356.3(SHF):c.285C>G (p.Asp95Glu)	LOC130056986, SHF (D95E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3161675	NM_138356.3(SHF):c.248G>A (p.Arg83Gln)	LOC130056986, SHF (R83Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2483107	NM_138356.3(SHF):c.247C>T (p.Arg83Trp)	LOC130056986, SHF (R83W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2224843	NM_138356.3(SHF):c.196T>C (p.Ser66Pro)	LOC130056986, SHF (S66P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2516748	NM_138356.3(SHF):c.83A>G (p.His28Arg)	LOC130056986, SHF (H28R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3161680	NM_138356.3(SHF):c.53T>C (p.Leu18Pro)	LOC130056986, SHF (L18P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3161674	NM_138356.3(SHF):c.14G>A (p.Gly5Glu)	LOC130056986, SHF (G5E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

ClinVar