581[geneid] - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59115	GRCh38/hg38 19q13.32-13.33(chr19:46658791-49050450)x3	LOC130064822, LOC130064823 +290 more	Copy number gain	See cases	GPathogenic
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	LOC130064925, LOC130064926 +1081 more	Copy number gain	See cases	GPathogenic
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064903, LOC130064904 +1093 more	Copy number gain	See cases	GPathogenic
Select item 2351869	NM_138761.4(BAX):c.7G>T (p.Gly3Trp)	BAX (G3W)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2260655	NM_138761.4(BAX):c.10T>C (p.Ser4Pro)	BAX (S4P)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2350019	NM_138761.4(BAX):c.43A>G (p.Ser15Gly)	BAX (S15G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 784551	NM_138761.4(BAX):c.69G>A (p.Gly23=)	BAX	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 9511	NM_138761.4(BAX):c.121dup (p.Glu41fs)	BAX (E41fs +1 more)	Duplication (frameshift variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 3133019	NM_138761.4(BAX):c.114G>C (p.Met38Ile)	BAX (M1I +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2301364	NM_138761.4(BAX):c.114G>T (p.Met38Ile)	BAX (M1I +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 9514	NM_138761.4(BAX):c.115_121del (p.Gly39fs)	BAX (G2fs +1 more)	Deletion (frameshift variant +3 more)	T-cell acute lymphoblastic leukemia	GPathogenic
Select item 9512	NM_138761.4(BAX):c.121del (p.Glu41fs)	BAX (E4fs +1 more)	Deletion (frameshift variant +3 more)	Carcinoma of colon	GPathogenic
Select item 3260470	NM_138761.4(BAX):c.167C>T (p.Thr56Ile)	BAX (T19I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2543620	NM_138761.4(BAX):c.167C>A (p.Thr56Asn)	BAX (T19N +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2551376	NM_138761.4(BAX):c.173A>G (p.Lys58Arg)	BAX (K21R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2543287	NM_138761.4(BAX):c.196A>G (p.Ile66Val)	BAX (I29V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 9513	NM_138761.4(BAX):c.199G>A (p.Gly67Arg)	BAX (G67R +1 more)	Single nucleotide variant (missense variant +2 more)	T-cell acute lymphoblastic leukemia	GPathogenic
Select item 3133020	NM_138761.4(BAX):c.241G>C (p.Ala81Pro)	BAX (A44P +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3260471	NM_138761.4(BAX):c.278T>C (p.Phe93Ser)	BAX (F44S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3133021	NM_138761.4(BAX):c.297G>C (p.Met99Ile)	BAX (M21I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 721597	NM_138761.4(BAX):c.306C>T (p.Asp102=)	BAX	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2464866	NM_138761.4(BAX):c.474+76G>A	BAX (A106T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3133022	NM_138761.4(BAX):c.474+95G>C	BAX (W190S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3133023	NM_138761.4(BAX):c.474+151G>A	BAX (V131M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 742552	NM_138761.4(BAX):c.501G>A (p.Thr167=)	BAX (A184T)	Single nucleotide variant (missense variant +4 more)	not provided	GLikely benign
Select item 3062398	GRCh37/hg19 19q13.33-13.41(chr19:48905537-51614930)x3	ACP4, ADM5 +118 more	Copy number gain	not specified	GLikely pathogenic
Select item 980768	GRCh37/hg19 19q13.33-13.43(chr19:48463931-57095254)x3	PPP1R15A, PPP2R1A +308 more	Copy number gain	not provided	GPathogenic
Select item 972980	GRCh37/hg19 19q13.32-13.42(chr19:47939842-54626871)	GRIN2D, GRWD1 +228 more	Copy number gain	not provided	Gnot provided
Select item 816084	GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3	C5AR1, C5AR2 +293 more	Copy number gain	not provided	GPathogenic
Select item 688109	GRCh37/hg19 19q13.33(chr19:48119589-49595956)x3	HSD17B14, IZUMO1 +58 more	Copy number gain	not provided	GUncertain significance
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

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Items: 32