Related gene-specific medical variations for Gene (Select 1687) - ClinVar

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Links from Gene

Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3360173	NM_001127453.2(GSDME):c.83_84del (p.Asp27_Ser28insTer)	GSDME	Microsatellite (nonsense +1 more)	not provided	GUncertain significance
Select item 3359926	NM_001127453.2(GSDME):c.112A>C (p.Thr38Pro)	GSDME (T38P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3359365	NM_001127453.2(GSDME):c.897del (p.Phe299fs)	GSDME (F135fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2970893	NM_001127453.2(GSDME):c.576+12C>T	GSDME, LOC129998098	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2872477	NM_001127453.2(GSDME):c.576+5G>A	GSDME, LOC129998098	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2684170	NM_001127453.2(GSDME):c.1184-6C>T	GSDME	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2440749	NM_001127453.2(GSDME):c.1441C>A (p.Leu481Ile)	GSDME (L317I +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 5	GUncertain significance
Select item 2440748	NM_001127453.2(GSDME):c.725G>A (p.Gly242Asp)	GSDME (G242D +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 5	GUncertain significance
Select item 1906928	NM_001127453.2(GSDME):c.576+4C>T	GSDME, LOC129998098	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1680841	NM_001127453.2(GSDME):c.569C>T (p.Thr190Met)	GSDME, LOC129998098 (T190M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1680840	NM_001127453.2(GSDME):c.576+16C>T	GSDME, LOC129998098	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1676322	NM_004403.3(GSDME):c.781C>T (p.Arg261Ter)	GSDME (R261* +1 more)	Single nucleotide variant	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1274977	NM_001127453.2(GSDME):c.576+101C>T	GSDME, LOC129998098	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1255479	NM_001127453.2(GSDME):c.576+21C>A	GSDME, LOC129998098	Single nucleotide variant (intron variant)	Autosomal dominant nonsyndromic hearing loss 5 +1 more	GBenign
Select item 1254184	NM_001127453.2(GSDME):c.576+51C>G	GSDME, LOC129998098	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 792668	NM_001127453.2(GSDME):c.573G>A (p.Val191=)	GSDME, LOC129998098	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 359861	NM_004403.3(GSDME):c.-235C>T	LOC129998104, GSDME	Single nucleotide variant (5 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 5	GUncertain significance
Select item 359860	NM_004403.3(GSDME):c.-216C>T	GSDME, LOC129998104	Single nucleotide variant (5 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 5	GUncertain significance
Select item 359852	NM_001127453.2(GSDME):c.576+13G>A	GSDME, LOC129998098	Single nucleotide variant (intron variant)	Autosomal dominant nonsyndromic hearing loss 5 +1 more	GBenign/Likely benign
Select item 227285	NM_001127453.2(GSDME):c.570G>A (p.Thr190=)	GSDME, LOC129998098	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2090	NG_011593.1:g.55397_56585delins59701_59837invGCCCA	GSDME	Complex	Autosomal dominant nonsyndromic hearing loss 5	GPathogenic

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Links from Gene

Items: 21