GSDMA[gene] - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	ABCA10, ADAM11 +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC130060795, LOC130060796 +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 2372434	NM_178171.5(GSDMA):c.41A>G (p.Gln14Arg)	GSDMA (Q14R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210556	NM_178171.5(GSDMA):c.113T>C (p.Leu38Pro)	GSDMA (L38P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556940	NM_178171.5(GSDMA):c.155G>A (p.Arg52Gln)	GSDMA (R52Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102796	NM_178171.5(GSDMA):c.209C>T (p.Pro70Leu)	GSDMA (P70L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365570	NM_178171.5(GSDMA):c.311C>T (p.Thr104Met)	GSDMA (T104M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2647730	NM_178171.5(GSDMA):c.336T>C (p.Thr112=)	GSDMA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3102797	NM_178171.5(GSDMA):c.455T>A (p.Val152Glu)	GSDMA (V152E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 402913	NM_178171.5(GSDMA):c.558+12AC[11]	GSDMA	Microsatellite (intron variant)	not specified	GBenign
Select item 3102798	NM_178171.5(GSDMA):c.563C>T (p.Ser188Phe)	GSDMA (S188F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594014	NM_178171.5(GSDMA):c.604G>A (p.Val202Ile)	GSDMA (V202I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3102799	NM_178171.5(GSDMA):c.724G>T (p.Val242Phe)	GSDMA (V242F)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2376797	NM_178171.5(GSDMA):c.752G>A (p.Gly251Glu)	GSDMA (G251E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603509	NM_178171.5(GSDMA):c.767G>T (p.Gly256Val)	GSDMA (G256V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622735	NM_178171.5(GSDMA):c.790G>C (p.Val264Leu)	GSDMA (V264L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336990	NM_178171.5(GSDMA):c.856C>T (p.Leu286Phe)	GSDMA (L286F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527945	NM_178171.5(GSDMA):c.946G>C (p.Glu316Gln)	GSDMA (E316Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367503	NM_178171.5(GSDMA):c.955C>T (p.Pro319Ser)	GSDMA (P319S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208253	NM_178171.5(GSDMA):c.1081G>A (p.Val361Met)	GSDMA (V361M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606422	NM_178171.5(GSDMA):c.1127T>C (p.Leu376Pro)	GSDMA (L376P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366011	NM_178171.5(GSDMA):c.1261G>A (p.Asp421Asn)	GSDMA (D421N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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	TNFSF12, TNFSF12-TNFSF13 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	AIPL1, AKAP1 +1143 more	Copy number gain	See cases	GPathogenic

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Items: 28