"Ambry Genetics"[submitter] AND "ERBIN"[gene] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2373779	NM_001253697.2(ERBIN):c.43C>T (p.Arg15Cys)	ERBIN (R15C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346773	NM_001253697.2(ERBIN):c.1562A>G (p.His521Arg)	ERBIN (H521R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1471357	NM_001253697.2(ERBIN):c.1591G>A (p.Val531Met)	ERBIN (V531M)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2254969	NM_001253697.2(ERBIN):c.1681A>G (p.Ile561Val)	ERBIN (I557V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1430508	NM_001253697.2(ERBIN):c.1879G>A (p.Val627Ile)	ERBIN (V623I +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1522078	NM_001253697.2(ERBIN):c.1949A>G (p.Asn650Ser)	ERBIN (N646S +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1394326	NM_001253697.2(ERBIN):c.1973G>C (p.Cys658Ser)	ERBIN (C654S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1406736	NM_001253697.2(ERBIN):c.2695G>A (p.Val899Ile)	ERBIN (V899I +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1521432	NM_001253697.2(ERBIN):c.2759A>G (p.Tyr920Cys)	ERBIN (Y920C +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 2332259	NM_001253697.2(ERBIN):c.2976G>T (p.Trp992Cys)	ERBIN (W988C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1448946	NM_001253697.2(ERBIN):c.3287G>A (p.Arg1096Gln)	ERBIN (R1092Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2258455	NM_001253697.2(ERBIN):c.3375A>T (p.Arg1125Ser)	ERBIN (R1121S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393106	NM_001253697.2(ERBIN):c.3471G>C (p.Met1157Ile)	ERBIN (M1157I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2172948	NM_001253697.2(ERBIN):c.3497G>A (p.Arg1166Gln)	ERBIN (R1162Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1385158	NM_001253697.2(ERBIN):c.4142A>G (p.Tyr1381Cys)	ERBIN (Y1340C +5 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance