"Ambry Genetics"[submitter] AND "LOC130064467"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2237248	NM_020971.3(SPTBN4):c.7099C>A (p.Pro2367Thr)	LOC130064467, SPTBN4 (P2367T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2212890	NM_020971.3(SPTBN4):c.7110C>A (p.Asp2370Glu)	LOC130064467, SPTBN4 (D2370E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2262770	NM_020971.3(SPTBN4):c.7135A>C (p.Lys2379Gln)	LOC130064467, SPTBN4 (K2379Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2280012	NM_020971.3(SPTBN4):c.7186C>T (p.Arg2396Trp)	LOC130064467, SPTBN4 (R2391W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2383387	NM_020971.3(SPTBN4):c.7196G>T (p.Arg2399Leu)	LOC130064467, SPTBN4 (R2394L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2593717	NM_020971.3(SPTBN4):c.7243C>T (p.Pro2415Ser)	LOC130064467, SPTBN4 (P2410S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2544735	NM_020971.3(SPTBN4):c.7303C>G (p.Arg2435Gly)	LOC130064467, SPTBN4 (R2430G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

ClinVar