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

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 179233	NM_013296.5(GPSM2):c.-2C>T	GPSM2	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 228731	NM_013296.5(GPSM2):c.57-10A>G	GPSM2	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 45572	NM_013296.5(GPSM2):c.87G>A (p.Leu29=)	GPSM2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 227414	NM_013296.5(GPSM2):c.123C>T (p.Arg41=)	GPSM2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 179453	NM_013296.5(GPSM2):c.186C>T (p.Ser62=)	GPSM2	Single nucleotide variant (synonymous variant)	Chudley-McCullough syndrome +2 more	GConflicting classifications of pathogenicity
Select item 178941	NM_013296.5(GPSM2):c.249A>G (p.Glu83=)	GPSM2	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 45567	NM_013296.5(GPSM2):c.278+5T>C	GPSM2	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 45568	NM_013296.5(GPSM2):c.380G>A (p.Arg127Gln)	GPSM2 (R127Q)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 180034	NM_013296.5(GPSM2):c.459_460del (p.Ala154fs)	GPSM2 (A154fs)	Deletion (frameshift variant)	Rare genetic deafness	GLikely pathogenic
Select item 424343	NM_013296.5(GPSM2):c.515AAG[1] (p.Glu173del)	GPSM2 (E173del)	Microsatellite (inframe_deletion)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 45569	NM_013296.5(GPSM2):c.529G>A (p.Ala177Thr)	GPSM2 (A177T)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 178375	NM_013296.5(GPSM2):c.593G>A (p.Arg198Gln)	GPSM2 (R198Q)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 517155	NM_013296.5(GPSM2):c.624T>C (p.Leu208=)	GPSM2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 517394	NM_013296.5(GPSM2):c.732A>G (p.Ala244=)	GPSM2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 35492	NM_013296.5(GPSM2):c.742del (p.Gly249fs)	GPSM2 (G249fs)	Deletion (frameshift variant)	Rare genetic deafness +3 more	GPathogenic/Likely pathogenic
Select item 45570	NM_013296.5(GPSM2):c.753A>G (p.Ala251=)	GPSM2	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 505420	NM_013296.5(GPSM2):c.765T>G (p.Leu255=)	GPSM2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 666836	NM_013296.5(GPSM2):c.818G>A (p.Arg273Gln)	GPSM2 (R273Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 45571	NM_013296.5(GPSM2):c.828A>G (p.Lys276=)	GPSM2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 228729	NM_013296.5(GPSM2):c.831C>G (p.Asp277Glu)	GPSM2 (D277E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 180049	NM_013296.5(GPSM2):c.1021G>A (p.Ala341Thr)	GPSM2 (A341T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 505415	NM_013296.5(GPSM2):c.1034C>G (p.Ala345Gly)	GPSM2 (A345G)	Single nucleotide variant (missense variant)	Chudley-McCullough syndrome +1 more	GUncertain significance
Select item 667117	NM_013296.5(GPSM2):c.1063-4G>C	GPSM2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 228354	NM_013296.5(GPSM2):c.1063-1G>T	GPSM2	Single nucleotide variant (splice acceptor variant)	Rare genetic deafness +1 more	GPathogenic/Likely pathogenic
Select item 45563	NM_013296.5(GPSM2):c.1066G>A (p.Gly356Arg)	GPSM2 (G356R)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 506755	NM_013296.5(GPSM2):c.1216C>T (p.Arg406Trp)	GPSM2 (R406W)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 291706	NM_013296.5(GPSM2):c.1358A>G (p.Lys453Arg)	GPSM2 (K453R)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 45564	NM_013296.5(GPSM2):c.1370C>T (p.Thr457Met)	GPSM2 (T457M)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 45565	NM_013296.5(GPSM2):c.1440+15A>G	GPSM2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 291707	NM_013296.5(GPSM2):c.1473del (p.Phe492fs)	GPSM2 (F492fs)	Deletion (frameshift variant)	GPSM2-related disorder +2 more	GPathogenic
Select item 499162	NM_013296.5(GPSM2):c.1486T>A (p.Leu496Ile)	GPSM2 (L496I)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 504591	NM_013296.5(GPSM2):c.1492C>T (p.Arg498Ter)	GPSM2 (R498*)	Single nucleotide variant (nonsense)	GPSM2-related disorder +3 more	GPathogenic/Likely pathogenic
Select item 517193	NM_013296.5(GPSM2):c.1560AAC[2] (p.Thr523del)	GPSM2 (T523del)	Microsatellite (inframe_deletion)	not provided +2 more	GBenign/Likely benign
Select item 226649	NM_013296.5(GPSM2):c.1569TTC[1] (p.Ser525del)	GPSM2 (S525del)	Microsatellite (inframe_deletion)	Chudley-McCullough syndrome +3 more	GBenign/Likely benign
Select item 517339	NM_013296.5(GPSM2):c.1631C>T (p.Thr544Met)	GPSM2 (T544M)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 228730	NM_013296.5(GPSM2):c.1670G>A (p.Arg557His)	GPSM2 (R557H)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 178376	NM_013296.5(GPSM2):c.1739C>T (p.Ser580Leu)	GPSM2 (S580L)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 163641	NM_013296.5(GPSM2):c.1816-8A>G	CLCC1, GPSM2	Single nucleotide variant (3 prime UTR variant +2 more)	Chudley-McCullough syndrome +2 more	GBenign/Likely benign
Select item 163642	NM_013296.5(GPSM2):c.1820C>T (p.Ser607Phe)	CLCC1, GPSM2 (S607F)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified +1 more	GBenign/Likely benign
Select item 505173	NM_013296.5(GPSM2):c.1872G>A (p.Pro624=)	CLCC1, GPSM2	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GLikely benign
Select item 163643	NM_013296.5(GPSM2):c.1876G>C (p.Val626Leu)	CLCC1, GPSM2 (V626L)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified +1 more	GUncertain significance
Select item 45566	NM_013296.5(GPSM2):c.2043G>A (p.Ser681=)	GPSM2, CLCC1	Single nucleotide variant (3 prime UTR variant +2 more)	Chudley-McCullough syndrome +2 more	GConflicting classifications of pathogenicity

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Items: 42