"PreventionGenetics, part of Exact Sciences"[submitter] AND "BICRA"[ge - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2630247	NM_001394372.1(BICRA):c.262G>A (p.Gly88Arg)	BICRA (G88R)	Single nucleotide variant (missense variant)	BICRA-related disorder	GUncertain significance
Select item 3040595	NM_001394372.1(BICRA):c.271G>A (p.Gly91Ser)	BICRA (G91S)	Single nucleotide variant (missense variant)	BICRA-related disorder	GLikely benign
Select item 1279704	NM_001394372.1(BICRA):c.360C>T (p.Ala120=)	BICRA	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2592235	NM_001394372.1(BICRA):c.656A>G (p.Asn219Ser)	BICRA (N219S)	Single nucleotide variant (missense variant)	BICRA-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 2636393	NM_001394372.1(BICRA):c.1096C>G (p.Leu366Val)	BICRA (L366V)	Single nucleotide variant (missense variant)	BICRA-related disorder	GUncertain significance
Select item 3030757	NM_001394372.1(BICRA):c.1181C>A (p.Pro394Gln)	BICRA (P394Q)	Single nucleotide variant (missense variant)	BICRA-related disorder	GUncertain significance
Select item 2571050	NM_001394372.1(BICRA):c.1602C>A (p.Ser534=)	BICRA	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2635769	NM_001394372.1(BICRA):c.1624C>T (p.Leu542Phe)	BICRA (L542F)	Single nucleotide variant (missense variant)	BICRA-related disorder	GUncertain significance
Select item 2629980	NM_001394372.1(BICRA):c.1654C>T (p.Pro552Ser)	BICRA (P552S)	Single nucleotide variant (missense variant)	BICRA-related disorder	GUncertain significance
Select item 2637389	NM_001394372.1(BICRA):c.1796C>T (p.Pro599Leu)	BICRA (P599L)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3043811	NM_001394372.1(BICRA):c.1973C>T (p.Pro658Leu)	BICRA (P658L)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1257456	NM_001394372.1(BICRA):c.2047C>T (p.Pro683Ser)	BICRA (P683S)	Single nucleotide variant (missense variant)	BICRA-related disorder +1 more	GBenign
Select item 2650179	NM_001394372.1(BICRA):c.2898G>A (p.Val966=)	BICRA	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2650181	NM_001394372.1(BICRA):c.3325G>A (p.Asp1109Asn)	BICRA (D1109N)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2632764	NM_001394372.1(BICRA):c.3964G>A (p.Val1322Met)	BICRA (V1322M)	Single nucleotide variant (missense variant)	BICRA-related disorder	GLikely pathogenic
Select item 3040387	NM_001394372.1(BICRA):c.4100C>A (p.Pro1367Gln)	BICRA (P1367Q)	Single nucleotide variant (missense variant)	not specified +1 more	GLikely benign
Select item 2630711	NM_001394372.1(BICRA):c.4267G>T (p.Glu1423Ter)	BICRA (E1423*)	Single nucleotide variant (nonsense)	BICRA-related disorder	GUncertain significance
Select item 3047911	NM_001394372.1(BICRA):c.4354G>A (p.Ala1452Thr)	BICRA (A1452T)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity