"Ambry Genetics"[submitter] AND "BRINP2"[gene] - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2252780	NM_021165.4(BRINP2):c.148G>A (p.Ala50Thr)	BRINP2 (A50T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411463	NM_021165.4(BRINP2):c.164T>G (p.Leu55Arg)	BRINP2 (L55R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308167	NM_021165.4(BRINP2):c.193T>A (p.Phe65Ile)	BRINP2 (F65I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252239	NM_021165.4(BRINP2):c.254G>A (p.Arg85Lys)	BRINP2 (R85K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262163	NM_021165.4(BRINP2):c.318C>G (p.Asp106Glu)	BRINP2, LOC126805931 (D106E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607274	NM_021165.4(BRINP2):c.334T>G (p.Leu112Val)	BRINP2, LOC126805931 (L112V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455837	NM_021165.4(BRINP2):c.400G>T (p.Val134Phe)	BRINP2, LOC126805931 (V134F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261769	NM_021165.4(BRINP2):c.407A>G (p.Glu136Gly)	BRINP2, LOC126805931 (E136G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483123	NM_021165.4(BRINP2):c.419A>G (p.Lys140Arg)	BRINP2, LOC126805931 (K140R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135063	NM_021165.4(BRINP2):c.496A>G (p.Lys166Glu)	BRINP2 (K166E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135064	NM_021165.4(BRINP2):c.541G>T (p.Gly181Trp)	BRINP2 (G181W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231188	NM_021165.4(BRINP2):c.541G>C (p.Gly181Arg)	BRINP2 (G181R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590326	NM_021165.4(BRINP2):c.607A>G (p.Ile203Val)	BRINP2 (I203V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205305	NM_021165.4(BRINP2):c.629G>A (p.Arg210Gln)	BRINP2 (R210Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459085	NM_021165.4(BRINP2):c.797A>C (p.Glu266Ala)	BRINP2 (E266A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364469	NM_021165.4(BRINP2):c.806G>A (p.Arg269His)	BRINP2 (R269H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588419	NM_021165.4(BRINP2):c.812G>A (p.Arg271His)	BRINP2 (R271H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300090	NM_021165.4(BRINP2):c.884G>T (p.Cys295Phe)	BRINP2 (C295F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211939	NM_021165.4(BRINP2):c.976T>A (p.Ser326Thr)	BRINP2 (S326T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487707	NM_021165.4(BRINP2):c.995G>A (p.Arg332Gln)	BRINP2 (R332Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135059	NM_021165.4(BRINP2):c.1024G>A (p.Ala342Thr)	BRINP2 (A342T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135060	NM_021165.4(BRINP2):c.1075T>G (p.Ser359Ala)	BRINP2 (S359A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532592	NM_021165.4(BRINP2):c.1091T>G (p.Met364Arg)	BRINP2 (M364R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489004	NM_021165.4(BRINP2):c.1109A>G (p.His370Arg)	BRINP2 (H370R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245543	NM_021165.4(BRINP2):c.1165A>C (p.Ile389Leu)	BRINP2 (I389L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389342	NM_021165.4(BRINP2):c.1183A>C (p.Asn395His)	BRINP2 (N395H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135061	NM_021165.4(BRINP2):c.1205G>A (p.Arg402His)	BRINP2 (R402H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408771	NM_021165.4(BRINP2):c.1219C>T (p.Arg407Cys)	BRINP2 (R407C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355367	NM_021165.4(BRINP2):c.1220G>A (p.Arg407His)	BRINP2 (R407H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482973	NM_021165.4(BRINP2):c.1261A>G (p.Ile421Val)	BRINP2 (I421V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330335	NM_021165.4(BRINP2):c.1394C>T (p.Ala465Val)	BRINP2 (A465V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135062	NM_021165.4(BRINP2):c.1427G>A (p.Arg476His)	BRINP2 (R476H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252602	NM_021165.4(BRINP2):c.1646G>A (p.Arg549His)	BRINP2 (R549H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329542	NM_021165.4(BRINP2):c.1648A>G (p.Met550Val)	BRINP2 (M550V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261770	NM_021165.4(BRINP2):c.1819G>A (p.Glu607Lys)	BRINP2 (E607K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535842	NM_021165.4(BRINP2):c.1912T>G (p.Phe638Val)	BRINP2 (F638V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243920	NM_021165.4(BRINP2):c.1963G>A (p.Asp655Asn)	BRINP2 (D655N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548592	NM_021165.4(BRINP2):c.1999G>A (p.Glu667Lys)	BRINP2 (E667K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306841	NM_021165.4(BRINP2):c.2113G>A (p.Asp705Asn)	BRINP2 (D705N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377508	NM_021165.4(BRINP2):c.2128C>G (p.Gln710Glu)	BRINP2 (Q710E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285693	NM_021165.4(BRINP2):c.2162T>C (p.Ile721Thr)	BRINP2 (I721T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309713	NM_021165.4(BRINP2):c.2206G>A (p.Val736Ile)	BRINP2 (V736I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329372	NM_021165.4(BRINP2):c.2265G>C (p.Glu755Asp)	BRINP2 (E755D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

ClinVar

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Items: 43