ClinVar for Gene (Select 645) - ClinVar

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Links from Gene

Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3261147	NM_000713.3(BLVRB):c.594C>A (p.Ser198Arg)	BLVRB (S198R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261146	NM_000713.3(BLVRB):c.593G>A (p.Ser198Asn)	BLVRB (S198N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3134447	NM_000713.3(BLVRB):c.92C>G (p.Thr31Arg)	BLVRB (T31R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134446	NM_000713.3(BLVRB):c.536A>G (p.His179Arg)	BLVRB (H179R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134445	NM_000713.3(BLVRB):c.319G>A (p.Val107Met)	BLVRB (V107M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134444	NM_000713.3(BLVRB):c.275G>A (p.Arg92Gln)	BLVRB (R92Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3134443	NM_000713.3(BLVRB):c.271G>A (p.Ala91Thr)	BLVRB (A91T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134442	NM_000713.3(BLVRB):c.145C>G (p.His49Asp)	BLVRB (H49D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134441	NM_000713.3(BLVRB):c.140C>T (p.Pro47Leu)	BLVRB (P47L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062386	GRCh37/hg19 19q11-13.2(chr19:28271146-41508851)x3	SLC7A9, SNRPA +215 more	Copy number gain	not specified	GPathogenic
Select item 2540394	NM_000713.3(BLVRB):c.28G>C (p.Gly10Arg)	BLVRB (G10R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470336	NM_000713.3(BLVRB):c.522G>T (p.Arg174Ser)	BLVRB (R174S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425787	NC_000019.9:g.(?_40882496)_(41135455_?)dup	BLVRB, HIPK4 +7 more	Duplication	not provided	GUncertain significance
Select item 2423350	NC_000019.9:g.(?_39904727)_(42931301_?)dup	ACTMAP, AKT2 +84 more	Duplication	TWIST1-related craniosynostosis +3 more	GUncertain significance
Select item 2404577	NM_000713.3(BLVRB):c.178G>A (p.Asp60Asn)	BLVRB (D60N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372133	NM_000713.3(BLVRB):c.65A>G (p.Gln22Arg)	BLVRB (Q22R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367460	NM_000713.3(BLVRB):c.526A>G (p.Ile176Val)	BLVRB (I176V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363569	NM_000713.3(BLVRB):c.341T>C (p.Leu114Pro)	BLVRB (L114P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360702	NM_000713.3(BLVRB):c.401G>A (p.Arg134Gln)	BLVRB (R134Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320565	NM_000713.3(BLVRB):c.268G>A (p.Gly90Ser)	BLVRB (G90S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308732	NM_000713.3(BLVRB):c.233G>A (p.Arg78His)	BLVRB (R78H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308376	NM_000713.3(BLVRB):c.274C>T (p.Arg92Trp)	BLVRB (R92W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268463	NM_000713.3(BLVRB):c.364C>T (p.Pro122Ser)	BLVRB (P122S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208681	NM_000713.3(BLVRB):c.559C>T (p.Arg187Cys)	BLVRB (R187C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1330177	GRCh37/hg19 19p13.11-q13.2(chr19:19546923-41313229)x3	ACP7, ACTMAP +255 more	Copy number gain	Specific learning disability	GPathogenic
Select item 784395	NM_000713.3(BLVRB):c.252G>C (p.Thr84=)	BLVRB	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 710783	NM_000713.3(BLVRB):c.147C>T (p.His49=)	BLVRB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 709797	NM_000713.3(BLVRB):c.418C>G (p.Arg140Gly)	BLVRB (R140G)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 709682	NM_000713.3(BLVRB):c.137G>A (p.Arg46Gln)	BLVRB (R46Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ZNF607, ZNF780A +432 more	Copy number gain	not provided	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 253452	GRCh37/hg19 19q13.12-13.2(chr19:37582250-41630908)x3	DPF1, DYRK1B +105 more	Copy number gain	See cases	GPathogenic
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 57043	GRCh38/hg38 19q13.12-13.2(chr19:37319377-42738688)x3	ACP7, ACTMAP +514 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 35