"Laboratory for Molecular Medicine, Mass General Brigham Personalized - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 179566	NM_001127453.2(GSDME):c.1416G>A (p.Lys472=)	GSDME	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 163031	NM_001127453.2(GSDME):c.1355T>C (p.Phe452Ser)	GSDME (F452S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 44841	NM_001127453.2(GSDME):c.1334T>A (p.Phe445Tyr)	GSDME (F445Y +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 505547	NM_001127453.2(GSDME):c.1331G>T (p.Arg444Met)	GSDME (R444M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 163032	NM_001127453.2(GSDME):c.1274ATG[1] (p.Asp426del)	GSDME (D426del +1 more)	Microsatellite (inframe_deletion)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 228250	NM_004403.2(GSDME):c.(?_863)-60_(1257_?)+61del	GSDME	Deletion	Rare genetic deafness	GLikely pathogenic
Select item 180085	NM_001127453.2(GSDME):c.1218T>C (p.Thr406=)	GSDME	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 228556	NM_001127453.2(GSDME):c.1213G>A (p.Gly405Ser)	GSDME (G405S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 517175	NM_001127453.2(GSDME):c.1208T>C (p.Leu403Pro)	GSDME (L403P +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 44840	NM_001127453.2(GSDME):c.1200A>G (p.Ala400=)	GSDME	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 44839	NM_001127453.2(GSDME):c.1199C>T (p.Ala400Val)	GSDME (A400V +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 517306	NM_001127453.2(GSDME):c.1197C>T (p.Ser399=)	GSDME	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 44838	NM_001127453.2(GSDME):c.1183+9A>T	GSDME	Single nucleotide variant (intron variant)	GSDME-related condition +3 more	GBenign/Likely benign
Select item 359841	NM_001127453.2(GSDME):c.1179C>T (p.Leu393=)	GSDME	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 178332	NM_001127453.2(GSDME):c.1122C>T (p.Pro374=)	GSDME	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 178334	NM_001127453.2(GSDME):c.1118G>A (p.Gly373Asp)	GSDME (G373D +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 179118	NM_001127453.2(GSDME):c.991T>C (p.Cys331Arg)	GSDME (C331R +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 179997	NM_001127453.2(GSDME):c.991-21TTC[2]	GSDME	Microsatellite (intron variant)	not provided +2 more	GPathogenic
Select item 44849	NM_001127453.2(GSDME):c.969A>G (p.Leu323=)	GSDME	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 667228	NM_001127453.2(GSDME):c.938T>C (p.Ile313Thr)	GSDME (I149T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 227286	NM_001127453.2(GSDME):c.934G>A (p.Asp312Asn)	GSDME (D312N +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 359844	NM_001127453.2(GSDME):c.864G>A (p.Ala288=)	GSDME	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 44848	NM_001127453.2(GSDME):c.863-6T>C	GSDME	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 179142	NM_004403.3(GSDME):c.862+10dup	GSDME	Duplication	not specified	GLikely benign
Select item 228559	NM_001127453.2(GSDME):c.830C>T (p.Ser277Phe)	GSDME (S277F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 163038	NM_001127453.2(GSDME):c.826T>C (p.Ser276Pro)	GSDME (S276P +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 228558	NM_001127453.2(GSDME):c.712C>T (p.Arg238Ter)	GSDME (R238* +1 more)	Single nucleotide variant (nonsense)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 517170	NM_001127453.2(GSDME):c.686dup (p.Asp229fs)	GSDME (D229fs +1 more)	Duplication (frameshift variant)	not specified	GUncertain significance
Select item 504976	NM_001127453.2(GSDME):c.687C>T (p.Asp229=)	GSDME	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 178333	NM_001127453.2(GSDME):c.658G>A (p.Gly220Ser)	GSDME (G220S +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 504951	NM_001127453.2(GSDME):c.656A>G (p.Tyr219Cys)	GSDME (Y219C +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 44847	NM_001127453.2(GSDME):c.619G>A (p.Val207Met)	GSDME (V207M +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 929958	NM_001127453.2(GSDME):c.587C>T (p.Thr196Met)	GSDME (T196M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 44846	NM_001127453.2(GSDME):c.577-15C>T	GSDME	Single nucleotide variant (intron variant)	not specified +2 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 178335	NM_001127453.2(GSDME):c.553G>A (p.Gly185Ser)	GSDME (G185S +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 44845	NM_001127453.2(GSDME):c.489G>A (p.Thr163=)	GSDME	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign
Select item 44844	NM_001127453.2(GSDME):c.447A>G (p.Glu149=)	GSDME	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GBenign
Select item 44843	NM_001127453.2(GSDME):c.424C>A (p.Pro142Thr)	GSDME (P142T)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +2 more	GBenign
Select item 163039	NM_001127453.2(GSDME):c.405-12T>C	GSDME	Single nucleotide variant (intron variant)	Autosomal dominant nonsyndromic hearing loss 5 +2 more	GBenign/Likely benign
Select item 44842	NM_001127453.2(GSDME):c.405-15G>A	GSDME	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 228557	NM_001127453.2(GSDME):c.212-6T>A	GSDME	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 228555	NM_004403.3(GSDME):c.119dup (p.Lys41fs)	GSDME (K41fs)	Duplication	not specified +3 more	GConflicting classifications of pathogenicity
Select item 226560	NM_001127453.2(GSDME):c.87T>A (p.Asp29Glu)	GSDME (D29E)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign/Likely benign

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Items: 44