STXBP4[gene] - ClinVar

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic
Select item 59590	GRCh38/hg38 17q21.33-22(chr17:49974533-56807609)x1	ABCC3, ACSF2 +196 more	Copy number loss	See cases	GPathogenic
Select item 3171804	NM_178509.6(STXBP4):c.48G>T (p.Lys16Asn)	STXBP4 (K16N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233879	NM_178509.6(STXBP4):c.66G>T (p.Met22Ile)	STXBP4 (M22I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378606	NM_178509.6(STXBP4):c.73A>G (p.Ile25Val)	STXBP4 (I25V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2208826	NM_178509.6(STXBP4):c.121C>T (p.Arg41Trp)	STXBP4 (R41W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373903	NM_178509.6(STXBP4):c.122G>A (p.Arg41Gln)	STXBP4 (R41Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310233	NM_178509.6(STXBP4):c.187C>G (p.Arg63Gly)	STXBP4 (R63G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212719	NM_178509.6(STXBP4):c.188G>A (p.Arg63His)	STXBP4 (R63H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171801	NM_178509.6(STXBP4):c.209T>G (p.Leu70Arg)	STXBP4 (L70R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171802	NM_178509.6(STXBP4):c.244T>C (p.Ser82Pro)	STXBP4 (S82P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246666	NM_178509.6(STXBP4):c.407C>T (p.Thr136Ile)	STXBP4 (T136I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171805	NM_178509.6(STXBP4):c.494G>T (p.Cys165Phe)	STXBP4 (C167F +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2207678	NM_178509.6(STXBP4):c.575A>C (p.Asp192Ala)	STXBP4 (D192A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605500	NM_178509.6(STXBP4):c.635C>T (p.Ser212Phe)	STXBP4 (S214F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323485	NM_178509.6(STXBP4):c.640C>T (p.Arg214Cys)	STXBP4 (R214C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515733	NM_178509.6(STXBP4):c.691C>A (p.Pro231Thr)	STXBP4 (P233T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330646	NM_178509.6(STXBP4):c.738C>G (p.Asp246Glu)	STXBP4 (D248E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490725	NM_178509.6(STXBP4):c.1006A>G (p.Lys336Glu)	STXBP4 (K336E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171797	NM_178509.6(STXBP4):c.1124G>A (p.Arg375His)	STXBP4 (R375H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317605	NM_178509.6(STXBP4):c.1156G>C (p.Ala386Pro)	STXBP4 (A388P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171798	NM_178509.6(STXBP4):c.1163T>C (p.Leu388Pro)	STXBP4 (L390P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462416	NM_178509.6(STXBP4):c.1219A>G (p.Met407Val)	STXBP4 (M407V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597109	NM_178509.6(STXBP4):c.1228G>A (p.Asp410Asn)	STXBP4 (D410N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171800	NM_178509.6(STXBP4):c.1409A>G (p.Asn470Ser)	STXBP4 (N470S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496283	NM_178509.6(STXBP4):c.1484T>C (p.Met495Thr)	STXBP4 (M497T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300529	NM_178509.6(STXBP4):c.1490G>T (p.Cys497Phe)	STXBP4 (C499F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240182	NM_178509.6(STXBP4):c.1517A>G (p.Tyr506Cys)	STXBP4 (Y508C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308420	NM_178509.6(STXBP4):c.1555A>T (p.Thr519Ser)	STXBP4 (T519S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323484	NM_178509.6(STXBP4):c.1607G>A (p.Arg536His)	STXBP4 (R536H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242218	Single allele	KIF18B, LPO +196 more	Deletion	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 3242217	GRCh37/hg19 17q12-22(chr17:41196270-41277589)	SLC4A1, DCAKD +422 more	Copy number loss	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 2684852	GRCh37/hg19 17q22(chr17:52678606-53155682)x3	COX11, STXBP4 +1 more	Copy number gain	not provided	GUncertain significance
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic
Select item 394267	GRCh37/hg19 17q22(chr17:52189051-57477162)x3	AKAP1, ANKFN1 +42 more	Copy number gain	See cases	GPathogenic
Select item 394158	GRCh37/hg19 17q21.33-23.2(chr17:49076980-58740945)x3	AKAP1, ANKFN1 +65 more	Copy number gain	See cases	GPathogenic

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Items: 39