GSDMB[gene] - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	LOC112533659, LOC112533660 +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	AARSD1, AATF +1753 more	Copy number gain	See cases	GPathogenic
Select item 58696	GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3	AARSD1, ACBD4 +633 more	Copy number gain	See cases	GPathogenic
Select item 154398	GRCh38/hg38 17q21.1(chr17:39876786-40048205)x1	CSF3, GSDMA +15 more	Copy number loss	See cases	GUncertain significance
Select item 2469525	NM_001165958.2(GSDMB):c.1106C>A (p.Ser369Tyr)	GSDMB (S347Y +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2647728	NM_001165958.2(GSDMB):c.1077C>T (p.Thr359=)	GSDMB	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3102806	NM_001165958.2(GSDMB):c.986C>T (p.Ala329Val)	GSDMB (A225V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3102805	NM_001165958.2(GSDMB):c.964G>T (p.Ala322Ser)	GSDMB (A218S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 761523	NM_001165958.2(GSDMB):c.916C>T (p.Leu306=)	GSDMB	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2621579	NM_001165958.2(GSDMB):c.848G>A (p.Cys283Tyr)	GSDMB (C270Y +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2523475	NM_001165958.2(GSDMB):c.781A>G (p.Met261Val)	GSDMB (M252V +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3102804	NM_001165958.2(GSDMB):c.755G>A (p.Arg252Lys)	GSDMB (R243K +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3102803	NM_001165958.2(GSDMB):c.656C>G (p.Thr219Arg)	GSDMB (T219R)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2561297	NM_001165958.2(GSDMB):c.656C>T (p.Thr219Met)	GSDMB (T219M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3102802	NM_001165958.2(GSDMB):c.575A>C (p.Lys192Thr)	GSDMB (K192T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2276788	NM_001165958.2(GSDMB):c.521G>A (p.Arg174Gln)	GSDMB (R174Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2455861	NM_001165958.2(GSDMB):c.440G>A (p.Arg147Gln)	GSDMB (R147Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2598601	NM_001165958.2(GSDMB):c.362C>T (p.Ser121Leu)	GSDMB (S121L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3102801	NM_001165958.2(GSDMB):c.360A>G (p.Ile120Met)	GSDMB (I120M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2324256	NM_001165958.2(GSDMB):c.356A>G (p.Lys119Arg)	GSDMB (K119R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2324989	NM_001165958.2(GSDMB):c.314C>T (p.Thr105Ile)	GSDMB (T105I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2542079	NM_001165958.2(GSDMB):c.313A>G (p.Thr105Ala)	GSDMB (T105A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2286485	NM_001165958.2(GSDMB):c.313A>T (p.Thr105Ser)	GSDMB (T105S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2264873	NM_001165958.2(GSDMB):c.148C>T (p.Arg50Trp)	GSDMB, LOC111089947 (R50W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2647729	NM_001165958.2(GSDMB):c.147C>T (p.Cys49=)	GSDMB, LOC111089947	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3102800	NM_001165958.2(GSDMB):c.124G>A (p.Glu42Lys)	GSDMB, LOC111089947 (E42K)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2548531	NM_001165958.2(GSDMB):c.76A>G (p.Arg26Gly)	GSDMB, LOC111089947 (R26G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2349579	NM_001165958.2(GSDMB):c.73G>A (p.Val25Ile)	GSDMB, LOC111089947 (V25I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 728833	NM_001165958.2(GSDMB):c.72C>T (p.Ala24=)	GSDMB, LOC111089947	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2424720	NC_000017.10:g.(?_37821613)_(38458253_?)dup	CASC3, CDC6 +20 more	Duplication	Hypertrophic cardiomyopathy 25 +1 more	GUncertain significance
Select item 686144	GRCh37/hg19 17p11.2-q21.2(chr17:21690653-38772647)x3	AATF, ABHD15 +201 more	Copy number gain	not provided	GPathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	EFTUD2, EIF1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	KRT15, KRT16 +1143 more	Copy number gain	See cases	GPathogenic

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Items: 33