ClinVar for Gene (Select 9570) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3893144	NM_004287.5(GOSR2):c.3G>C (p.Met1Ile)	LRRC37A2, GOSR2 (M1I)	Single nucleotide variant (missense variant +3 more)	Muscular dystrophy, congenital, with or without seizures +1 more	GUncertain significance
Select item 3726743	NM_004287.5(GOSR2):c.537G>A (p.Met179Ile)	GOSR2, LRRC37A2 (M114I +5 more)	Single nucleotide variant (missense variant +1 more)	Progressive myoclonic epilepsy	GUncertain significance
Select item 3719808	NM_004287.5(GOSR2):c.478-19_478-18del	GOSR2, LRRC37A2	Deletion (intron variant)	Progressive myoclonic epilepsy	GLikely benign
Select item 3712404	NM_004287.5(GOSR2):c.179dup (p.Pro60_Asn61insTer)	GOSR2, LOC126862578 +1 more	Duplication (frameshift variant +1 more)	Progressive myoclonic epilepsy	GPathogenic
Select item 3704532	NM_004287.5(GOSR2):c.94+15G>C	GOSR2, LRRC37A2	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy	GLikely benign
Select item 3683794	NM_004287.5(GOSR2):c.241C>T (p.Gln81Ter)	LOC126862578, LRRC37A2 +1 more (Q81* +2 more)	Single nucleotide variant (nonsense +1 more)	Progressive myoclonic epilepsy	GPathogenic
Select item 3678178	NM_004287.5(GOSR2):c.570G>A (p.Lys190=)	GOSR2, LRRC37A2	Single nucleotide variant (synonymous variant +1 more)	Progressive myoclonic epilepsy	GLikely benign
Select item 3665942	NM_004287.5(GOSR2):c.109A>T (p.Ile37Phe)	GOSR2, LOC126862578 +1 more (I19F +2 more)	Single nucleotide variant (missense variant +1 more)	Progressive myoclonic epilepsy	GUncertain significance
Select item 3662745	NM_004287.5(GOSR2):c.336+13C>G	GOSR2, LRRC37A2	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy	GLikely benign
Select item 3649589	NM_004287.5(GOSR2):c.174G>A (p.Glu58=)	GOSR2, LOC126862578 +1 more	Single nucleotide variant (synonymous variant +1 more)	Progressive myoclonic epilepsy	GLikely benign
Select item 3641418	NM_004287.5(GOSR2):c.561C>T (p.Phe187=)	GOSR2, LRRC37A2	Single nucleotide variant (synonymous variant +1 more)	Progressive myoclonic epilepsy	GLikely benign
Select item 3638297	NM_004287.5(GOSR2):c.337-16T>G	GOSR2, LRRC37A2	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy	GLikely benign
Select item 3623088	NM_004287.5(GOSR2):c.156G>A (p.Glu52=)	GOSR2, LOC126862578 +1 more	Single nucleotide variant (synonymous variant +1 more)	Progressive myoclonic epilepsy	GLikely benign
Select item 3622642	NM_004287.5(GOSR2):c.336+14G>T	GOSR2, LRRC37A2	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy	GLikely benign
Select item 3614847	NM_004287.5(GOSR2):c.69G>A (p.Glu23=)	GOSR2, LRRC37A2	Single nucleotide variant (synonymous variant +1 more)	Progressive myoclonic epilepsy	GLikely benign
Select item 3607485	NM_004287.5(GOSR2):c.203+13dup	GOSR2, LOC126862578 +1 more	Duplication (intron variant)	Progressive myoclonic epilepsy	GLikely benign
Select item 3602955	NM_004287.5(GOSR2):c.73G>T (p.Ala25Ser)	GOSR2, LRRC37A2 (A25S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3521343	NM_004287.5(GOSR2):c.157A>G (p.Ile53Val)	GOSR2, LOC126862578 +1 more (I35V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3521342	NM_004287.5(GOSR2):c.74C>A (p.Ala25Glu)	GOSR2, LRRC37A2 (A25E +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3361998	NM_004287.5(GOSR2):c.409A>G (p.Met137Val)	GOSR2 (M119V +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3256855	NM_001321133.2(GOSR2):c.583+10263G>A	GOSR2, LRRC37A2	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 3256854	NM_001321133.2(GOSR2):c.583+10296G>A	GOSR2, LRRC37A2	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 3255265	NM_001321133.2(GOSR2):c.584-2806T>C	GOSR2, LRRC37A2	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 3255257	NM_001321133.2(GOSR2):c.*57C>A	GOSR2, LRRC37A2	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GBenign
Select item 3252675	NM_004287.5(GOSR2):c.204-22TC[6]	GOSR2, LOC126862578 +1 more	Microsatellite (intron variant)	not provided	GUncertain significance
Select item 3242218	Single allele	ABCC3, ABI3 +196 more	Deletion	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 3242217	GRCh37/hg19 17q12-22(chr17:41196270-41277589)	AARSD1, AATF +422 more	Copy number loss	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 3101019	NM_004287.5(GOSR2):c.256A>G (p.Asn86Asp)	GOSR2, LOC126862578 +1 more (N85D +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3050236	NM_001321133.2(GOSR2):c.584-4G>T	GOSR2, LRRC37A2	Single nucleotide variant (intron variant)	GOSR2-related disorder	GLikely benign
Select item 3039554	NM_001321133.2(GOSR2):c.657C>T (p.Ser219=)	GOSR2, LRRC37A2	Single nucleotide variant (synonymous variant +1 more)	GOSR2-related disorder	GBenign
Select item 3035142	NM_004287.5(GOSR2):c.477+27G>A	GOSR2, LRRC37A2	Single nucleotide variant (synonymous variant +1 more)	GOSR2-related disorder	GLikely benign
Select item 3006691	NM_004287.5(GOSR2):c.337-13_337-12del	LRRC37A2, GOSR2	Microsatellite (intron variant)	Progressive myoclonic epilepsy	GLikely benign
Select item 2997886	NM_004287.5(GOSR2):c.30-10_30-7del	GOSR2, LRRC37A2	Deletion (intron variant)	Progressive myoclonic epilepsy	GLikely benign
Select item 2995102	NM_004287.5(GOSR2):c.336+7C>A	GOSR2, LRRC37A2	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy	GLikely benign
Select item 2994079	NM_004287.5(GOSR2):c.336+20A>C	GOSR2, LRRC37A2	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy	GLikely benign
Select item 2973698	NM_004287.5(GOSR2):c.30-4A>G	GOSR2, LRRC37A2	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy	GLikely benign
Select item 2965097	NM_004287.5(GOSR2):c.618C>T (p.Leu206=)	GOSR2, LRRC37A2	Single nucleotide variant (synonymous variant +1 more)	Progressive myoclonic epilepsy	GLikely benign
Select item 2958803	NM_004287.5(GOSR2):c.609C>T (p.Val203=)	GOSR2, LRRC37A2	Single nucleotide variant (synonymous variant +1 more)	Progressive myoclonic epilepsy	GLikely benign
Select item 2897956	NM_004287.5(GOSR2):c.203+17G>T	GOSR2, LOC126862578 +1 more	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy	GLikely benign
Select item 2879588	NM_004287.5(GOSR2):c.204-17C>G	GOSR2, LOC126862578 +1 more	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy	GLikely benign
Select item 2804423	NM_004287.5(GOSR2):c.219A>G (p.Leu73=)	GOSR2, LOC126862578 +1 more	Single nucleotide variant (synonymous variant +1 more)	Progressive myoclonic epilepsy	GLikely benign
Select item 2797676	NM_004287.5(GOSR2):c.221dup (p.Tyr75fs)	GOSR2, LOC126862578 +1 more (Y74fs +2 more)	Duplication (frameshift variant +1 more)	Progressive myoclonic epilepsy	GPathogenic
Select item 2749599	NM_004287.5(GOSR2):c.480G>T (p.Gly160=)	GOSR2, LRRC37A2	Single nucleotide variant (synonymous variant +1 more)	Progressive myoclonic epilepsy	GLikely benign
Select item 2748845	NM_004287.5(GOSR2):c.186_187del (p.Arg63fs)	GOSR2, LOC126862578 +1 more (R62fs +2 more)	Deletion (frameshift variant +1 more)	Progressive myoclonic epilepsy	GPathogenic
Select item 2608023	NM_004287.5(GOSR2):c.5A>G (p.Asp2Gly)	GOSR2, LRRC37A2 (D2G)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2582959	NC_000017.11:g.46966700A>G	GOSR2, LRRC37A2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2557686	NM_004287.5(GOSR2):c.53G>T (p.Cys18Phe)	GOSR2, LRRC37A2 (C18F)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2527752	NM_004287.5(GOSR2):c.302G>C (p.Arg101Pro)	GOSR2, LOC126862578 +1 more (R100P +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2506553	GRCh37/hg19 17q21.32(chr17:44949883-46507482)	CBX1, CDC27 +24 more	Copy number gain	PNPO-related disorder	GLikely pathogenic
Select item 2501009	NM_004287.5(GOSR2):c.1A>C (p.Met1Leu)	GOSR2, LRRC37A2 (M1L)	Single nucleotide variant (missense variant +3 more)	Hearing loss, autosomal recessive	GLikely pathogenic
Select item 2488456	NM_004287.5(GOSR2):c.176C>A (p.Pro59His)	GOSR2, LOC126862578 +1 more (P59H +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2480077	NM_004287.5(GOSR2):c.8C>T (p.Pro3Leu)	GOSR2, LRRC37A2 (P3L)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 2444685	NM_004287.5(GOSR2):c.627G>C (p.Gln209His)	GOSR2, LRRC37A2 (Q144H +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2432234	NM_004287.5(GOSR2):c.5A>C (p.Asp2Ala)	GOSR2, LRRC37A2 (D2A)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2429521	NM_004287.5(GOSR2):c.618_623delinsACCTAGGGGAAACAAGATGTAGTGCTATTGCCGATAACAAGTAAGATTTTCCACACTACAGCTGGGTGTTTCTCTTTTCTAAAGTGAGGCCAGTGTTATTTCCCGGGAGTGTTCAGTCTTGACCCTAGTCACTGATTTTTTCTAGTTGTTAATAGAGTGGTTGGCTTTTAAGGTTCAGAGACTGTGGCTTGGCACCTGCGCCCAGGCTTTGTGGGCCTTTGCCCCTTAGAAAGTAGCTGTAGGCAAAGATTTGTGATTTTCCAACTTTGAG (p.Val207_Val208delinsProArgGlyAsnLysMetTer)	GOSR2, LRRC37A2	Indel (nonsense +1 more)	not provided	GUncertain significance
Select item 2425053	NC_000017.10:g.(?_44845686)_(45016126_?)dup	GOSR2, WNT3 +1 more	Duplication	Progressive myoclonic epilepsy	GUncertain significance
Select item 2294663	NM_004287.5(GOSR2):c.524C>T (p.Ser175Phe)	GOSR2, LRRC37A2 (S110F +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2234799	NM_004287.5(GOSR2):c.341_342del (p.Asp113_Ser114insTer)	GOSR2, LRRC37A2	Microsatellite (nonsense +2 more)	Inborn genetic diseases	GPathogenic
Select item 2200674	NM_004287.5(GOSR2):c.494T>C (p.Ile165Thr)	GOSR2, LRRC37A2 (I147T +5 more)	Single nucleotide variant (missense variant +1 more)	Progressive myoclonic epilepsy	GUncertain significance
Select item 2186436	NM_004287.5(GOSR2):c.302G>A (p.Arg101Gln)	GOSR2, LOC126862578 +1 more (R101Q +2 more)	Single nucleotide variant (missense variant +1 more)	Progressive myoclonic epilepsy +1 more	GUncertain significance
Select item 2157758	NM_004287.5(GOSR2):c.203+8C>G	LOC126862578, LRRC37A2 +1 more	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy	GLikely benign
Select item 2142838	NM_004287.5(GOSR2):c.30-12T>C	GOSR2, LRRC37A2	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy	GLikely benign
Select item 2127086	NM_004287.5(GOSR2):c.6T>A (p.Asp2Glu)	GOSR2, LRRC37A2 (D2E)	Single nucleotide variant (missense variant +2 more)	Progressive myoclonic epilepsy	GUncertain significance
Select item 2126674	NM_004287.5(GOSR2):c.92A>G (p.His31Arg)	GOSR2, LRRC37A2 (H31R +1 more)	Single nucleotide variant (missense variant +1 more)	Progressive myoclonic epilepsy	GUncertain significance
Select item 2126481	NM_004287.5(GOSR2):c.460_461dup (p.Gln154fs)	GOSR2, LRRC37A2 (Q136fs +2 more)	Duplication (frameshift variant +2 more)	Progressive myoclonic epilepsy	GUncertain significance
Select item 2123629	NM_004287.5(GOSR2):c.262C>T (p.Gln88Ter)	GOSR2, LOC126862578 +1 more (Q87* +2 more)	Single nucleotide variant (nonsense +1 more)	Progressive myoclonic epilepsy	GPathogenic
Select item 2091522	NM_004287.5(GOSR2):c.3G>T (p.Met1Ile)	GOSR2, LRRC37A2 (M1I)	Single nucleotide variant (missense variant +3 more)	Progressive myoclonic epilepsy	GUncertain significance
Select item 2085240	NM_004287.5(GOSR2):c.383C>A (p.Ser128Tyr)	GOSR2, LRRC37A2 (S127Y +2 more)	Single nucleotide variant (missense variant +2 more)	Progressive myoclonic epilepsy	GUncertain significance
Select item 2066076	NM_004287.5(GOSR2):c.106G>A (p.Glu36Lys)	LOC126862578, GOSR2 +1 more (E35K +2 more)	Single nucleotide variant (missense variant +1 more)	Progressive myoclonic epilepsy	GUncertain significance
Select item 2048348	NM_004287.5(GOSR2):c.397G>A (p.Val133Ile)	GOSR2, LRRC37A2 (V132I +2 more)	Single nucleotide variant (missense variant +2 more)	Progressive myoclonic epilepsy	GUncertain significance
Select item 2045408	NM_004287.5(GOSR2):c.162G>T (p.Leu54Phe)	GOSR2, LOC126862578 +1 more (L53F +2 more)	Single nucleotide variant (missense variant +1 more)	Progressive myoclonic epilepsy	GUncertain significance
Select item 2042274	NM_004287.5(GOSR2):c.15C>T (p.Phe5=)	GOSR2, LRRC37A2	Single nucleotide variant (synonymous variant +2 more)	Progressive myoclonic epilepsy	GLikely benign
Select item 2035045	NM_004287.5(GOSR2):c.300G>A (p.Gln100=)	GOSR2, LOC126862578 +1 more	Single nucleotide variant (synonymous variant +1 more)	Progressive myoclonic epilepsy	GLikely benign
Select item 2025601	NM_004287.5(GOSR2):c.437A>G (p.Asn146Ser)	GOSR2, LRRC37A2 (N146S +2 more)	Single nucleotide variant (missense variant +2 more)	Progressive myoclonic epilepsy	GBenign
Select item 2023902	NM_004287.5(GOSR2):c.204-8A>C	GOSR2, LOC126862578 +1 more	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy	GLikely benign
Select item 2022995	NM_004287.5(GOSR2):c.478-6C>T	GOSR2, LRRC37A2	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy	GLikely benign
Select item 2022994	NM_004287.5(GOSR2):c.478-7_478-6insAGAACAGAAG	GOSR2, LRRC37A2	Microsatellite (intron variant)	Progressive myoclonic epilepsy	GUncertain significance
Select item 2004441	NM_004287.5(GOSR2):c.50C>T (p.Ser17Phe)	GOSR2, LRRC37A2 (S17F)	Single nucleotide variant (missense variant +2 more)	Progressive myoclonic epilepsy	GUncertain significance
Select item 2002921	NM_004287.5(GOSR2):c.204-9C>T	LOC126862578, LRRC37A2 +1 more	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy	GLikely benign
Select item 1996336	NM_004287.5(GOSR2):c.380A>G (p.Asn127Ser)	GOSR2, LRRC37A2 (N109S +2 more)	Single nucleotide variant (missense variant +2 more)	Progressive myoclonic epilepsy	GUncertain significance
Select item 1993040	NM_004287.5(GOSR2):c.169A>G (p.Lys57Glu)	LRRC37A2, GOSR2 +1 more (K56E +2 more)	Single nucleotide variant (missense variant +1 more)	Progressive myoclonic epilepsy	GUncertain significance
Select item 1989411	NM_004287.5(GOSR2):c.94+12A>T	GOSR2, LRRC37A2	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy	GLikely benign
Select item 1987896	NM_004287.5(GOSR2):c.390C>T (p.Leu130=)	GOSR2, LRRC37A2	Single nucleotide variant (synonymous variant +2 more)	Progressive myoclonic epilepsy	GLikely benign
Select item 1978208	NM_004287.5(GOSR2):c.524C>A (p.Ser175Tyr)	GOSR2, LRRC37A2 (S174Y +5 more)	Single nucleotide variant (missense variant +1 more)	Progressive myoclonic epilepsy	GUncertain significance
Select item 1975484	NM_004287.5(GOSR2):c.596T>C (p.Leu199Pro)	GOSR2, LRRC37A2 (L151P +5 more)	Single nucleotide variant (missense variant +1 more)	Progressive myoclonic epilepsy	GUncertain significance
Select item 1965959	NM_004287.5(GOSR2):c.29+17G>A	LRRC37A2, GOSR2	Single nucleotide variant (5 prime UTR variant +1 more)	Progressive myoclonic epilepsy	GLikely benign
Select item 1956133	NM_004287.5(GOSR2):c.121A>G (p.Ile41Val)	GOSR2, LOC126862578 +1 more (I23V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1949213	NM_004287.5(GOSR2):c.30-20C>T	GOSR2, LRRC37A2	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy	GLikely benign
Select item 1943210	NM_004287.5(GOSR2):c.10C>T (p.Leu4=)	GOSR2, LRRC37A2	Single nucleotide variant (synonymous variant +2 more)	Progressive myoclonic epilepsy	GLikely benign
Select item 1931725	NM_004287.5(GOSR2):c.354A>G (p.Ile118Met)	GOSR2, LRRC37A2 (I117M +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1911920	NM_004287.5(GOSR2):c.478G>C (p.Gly160Arg)	GOSR2, LRRC37A2 (G95R +5 more)	Single nucleotide variant (missense variant +1 more)	Progressive myoclonic epilepsy	GUncertain significance
Select item 1899762	NM_004287.5(GOSR2):c.29+13C>A	GOSR2, LRRC37A2	Single nucleotide variant (5 prime UTR variant +1 more)	Progressive myoclonic epilepsy	GLikely benign
Select item 1810140	NM_004287.5(GOSR2):c.122T>G (p.Ile41Arg)	GOSR2, LOC126862578 +1 more (I23R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1747100	NM_004287.5(GOSR2):c.536T>C (p.Met179Thr)	GOSR2, LRRC37A2 (M161T +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1737535	NM_004287.5(GOSR2):c.406G>A (p.Gly136Ser)	GOSR2, LRRC37A2 (G118S +2 more)	Single nucleotide variant (missense variant +2 more)	Progressive myoclonic epilepsy +1 more	GUncertain significance
Select item 1728759	NM_004287.5(GOSR2):c.319C>G (p.Arg107Gly)	GOSR2, LRRC37A2 (R107G +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1713500	NM_004287.5(GOSR2):c.374A>G (p.Gln125Arg)	GOSR2, LRRC37A2 (Q107R +2 more)	Single nucleotide variant (missense variant +2 more)	Progressive myoclonic epilepsy	GUncertain significance
Select item 1663976	NM_004287.5(GOSR2):c.30-14T>C	GOSR2, LRRC37A2	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy	GLikely benign
Select item 1649367	NM_004287.5(GOSR2):c.525C>T (p.Ser175=)	GOSR2, LRRC37A2	Single nucleotide variant (synonymous variant +1 more)	Progressive myoclonic epilepsy	GLikely benign
Select item 1629246	NM_004287.5(GOSR2):c.478-14C>T	GOSR2, LRRC37A2	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy	GLikely benign

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