9570[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic
Select item 59307	GRCh38/hg38 17q21.31-21.32(chr17:46444520-46990403)x3	ARL17A, FAM215B +16 more	Copy number gain	See cases	GUncertain significance
Select item 1241591	NC_000017.11:g.46922868C>T	GOSR2, GOSR2-DT +1 more	Single nucleotide variant	not provided	GBenign
Select item 1230145	NC_000017.11:g.46922988C>T	GOSR2, LRRC37A2	Single nucleotide variant	not provided	GBenign
Select item 323818	NM_004287.4(GOSR2):c.-64G>T	LRRC37A2, GOSR2	Single nucleotide variant (genic downstream transcript variant)	Progressive myoclonic epilepsy	GUncertain significance
Select item 1277663	NM_001012511.3(GOSR2):c.-32_-31insCCAGAGCCAG	GOSR2, LRRC37A2	Duplication	not provided	GBenign
Select item 389335	NM_004287.4(GOSR2):c.-34C>T	GOSR2, LRRC37A2	Single nucleotide variant (genic downstream transcript variant)	not specified	GLikely benign
Select item 137487	NM_004287.5(GOSR2):c.-30G>C	GOSR2, LRRC37A2	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +3 more	GBenign
Select item 377927	NM_004287.5(GOSR2):c.-29C>T	GOSR2, LRRC37A2	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GLikely benign
Select item 377928	NM_004287.5(GOSR2):c.-26G>C	GOSR2, LRRC37A2	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GBenign
Select item 205626	NM_004287.5(GOSR2):c.-23C>A	GOSR2, LRRC37A2	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GBenign
Select item 517687	NM_004287.5(GOSR2):c.-22C>G	GOSR2, LRRC37A2	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 323819	NM_004287.5(GOSR2):c.-20T>G	GOSR2, LRRC37A2	Single nucleotide variant (5 prime UTR variant +1 more)	Progressive myoclonic epilepsy	GUncertain significance
Select item 1233755	NM_004287.5(GOSR2):c.-16C>G	GOSR2, LRRC37A2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 193275	NM_004287.5(GOSR2):c.-12G>C	LRRC37A2, GOSR2	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +3 more	GBenign
Select item 323820	NM_004287.5(GOSR2):c.-7C>G	GOSR2, LRRC37A2	Single nucleotide variant (5 prime UTR variant +1 more)	Progressive myoclonic epilepsy	GUncertain significance
Select item 205632	NM_004287.5(GOSR2):c.-1C>T	GOSR2, LRRC37A2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
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 1061696	NM_004287.5(GOSR2):c.1A>G (p.Met1Val)	GOSR2, LRRC37A2 (M1V)	Single nucleotide variant (missense variant +3 more)	Progressive myoclonic epilepsy +2 more	GConflicting classifications of pathogenicity
Select item 1324496	NM_004287.5(GOSR2):c.2T>G (p.Met1Arg)	GOSR2, LRRC37A2 (M1R)	Single nucleotide variant (missense variant +3 more)	Muscular dystrophy, congenital, with or without seizures	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 1057885	NM_004287.5(GOSR2):c.3G>A (p.Met1Ile)	GOSR2, LRRC37A2 (M1I)	Single nucleotide variant (missense variant +3 more)	Progressive myoclonic epilepsy	GUncertain significance
Select item 1488435	NM_004287.5(GOSR2):c.4G>A (p.Asp2Asn)	GOSR2, LRRC37A2 (D2N)	Single nucleotide variant (missense variant +2 more)	Progressive myoclonic epilepsy	GUncertain significance
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 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 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 700303	NM_004287.5(GOSR2):c.6T>C (p.Asp2=)	GOSR2, LRRC37A2	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 1365644	NM_004287.5(GOSR2):c.7C>G (p.Pro3Ala)	GOSR2, LRRC37A2 (P3A)	Single nucleotide variant (missense variant +2 more)	Progressive myoclonic epilepsy	GUncertain significance
Select item 1036487	NM_004287.5(GOSR2):c.7C>T (p.Pro3Ser)	GOSR2, LRRC37A2 (P3S)	Single nucleotide variant (missense variant +2 more)	Progressive myoclonic epilepsy +1 more	GUncertain significance
Select item 137488	NM_004287.5(GOSR2):c.7C>A (p.Pro3Thr)	GOSR2, LRRC37A2 (P3T)	Single nucleotide variant (missense variant +2 more)	not specified +3 more	GBenign/Likely benign
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 429688	NM_004287.5(GOSR2):c.8C>A (p.Pro3His)	LRRC37A2, GOSR2 (P3H)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 1100878	NM_004287.5(GOSR2):c.9C>G (p.Pro3=)	GOSR2, LRRC37A2	Single nucleotide variant (synonymous variant +2 more)	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 939595	NM_004287.5(GOSR2):c.10C>G (p.Leu4Val)	GOSR2, LRRC37A2 (L4V)	Single nucleotide variant (missense variant +2 more)	Progressive myoclonic epilepsy	GUncertain significance
Select item 1057326	NM_004287.5(GOSR2):c.14T>A (p.Phe5Tyr)	GOSR2, LRRC37A2 (F5Y)	Single nucleotide variant (missense variant +2 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 1437283	NM_004287.5(GOSR2):c.15C>G (p.Phe5Leu)	GOSR2, LRRC37A2 (F5L)	Single nucleotide variant (missense variant +2 more)	Progressive myoclonic epilepsy	GUncertain significance
Select item 1410870	NM_004287.5(GOSR2):c.16C>T (p.Gln6Ter)	GOSR2, LRRC37A2 (Q6*)	Single nucleotide variant (nonsense +2 more)	Progressive myoclonic epilepsy	GPathogenic
Select item 462913	NM_004287.5(GOSR2):c.17A>G (p.Gln6Arg)	GOSR2, LRRC37A2 (Q6R)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 405440	NM_004287.5(GOSR2):c.22dup (p.Thr8fs)	GOSR2, LRRC37A2 (T8fs)	Duplication (frameshift variant +2 more)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 947346	NM_004287.5(GOSR2):c.20A>G (p.Gln7Arg)	GOSR2, LRRC37A2 (Q7R)	Single nucleotide variant (missense variant +2 more)	Progressive myoclonic epilepsy	GUncertain significance
Select item 1509741	NM_004287.5(GOSR2):c.28A>G (p.Lys10Glu)	GOSR2, LRRC37A2 (K10E)	Single nucleotide variant (missense variant +2 more)	Progressive myoclonic epilepsy	GUncertain significance
Select item 265531	NM_004287.5(GOSR2):c.29+1G>A	GOSR2, LRRC37A2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely pathogenic
Select item 193276	NM_004287.5(GOSR2):c.29+3G>A	LRRC37A2, GOSR2	Single nucleotide variant (5 prime UTR variant +1 more)	Progressive myoclonic epilepsy +1 more	GUncertain significance
Select item 137489	NM_004287.5(GOSR2):c.29+8C>T	GOSR2, LRRC37A2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 383842	NM_004287.5(GOSR2):c.29+9C>T	GOSR2, LRRC37A2	Single nucleotide variant (5 prime UTR variant +1 more)	Progressive myoclonic epilepsy +1 more	GLikely benign
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	GUncertain significance
Select item 323821	NM_004287.5(GOSR2):c.29+13C>T	GOSR2, LRRC37A2	Single nucleotide variant (5 prime UTR variant +1 more)	Progressive myoclonic epilepsy type 6 +2 more	GConflicting classifications of pathogenicity
Select item 1579406	NM_004287.5(GOSR2):c.29+15G>T	GOSR2, LRRC37A2	Single nucleotide variant (5 prime UTR variant +1 more)	Progressive myoclonic epilepsy	GLikely benign
Select item 1965959	NM_004287.5(GOSR2):c.29+17G>A	GOSR2, LRRC37A2	Single nucleotide variant (5 prime UTR variant +1 more)	Progressive myoclonic epilepsy	GLikely benign
Select item 1271103	NM_004287.5(GOSR2):c.29+114A>G	GOSR2, LRRC37A2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1231575	NM_004287.5(GOSR2):c.29+149C>T	GOSR2, LRRC37A2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
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 1576113	NM_004287.5(GOSR2):c.30-15C>T	GOSR2, LRRC37A2	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy	GLikely benign
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 2997886	NM_004287.5(GOSR2):c.30-10_30-7del	GOSR2, LRRC37A2	Deletion (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 1143479	NM_004287.5(GOSR2):c.30-10C>T	GOSR2, LRRC37A2	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy	GLikely benign
Select item 1568958	NM_004287.5(GOSR2):c.30-8T>A	GOSR2, LRRC37A2	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy	GLikely benign
Select item 1532879	NM_004287.5(GOSR2):c.30-7T>A	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 1346246	NM_004287.5(GOSR2):c.31C>G (p.Gln11Glu)	GOSR2, LRRC37A2 (Q11E)	Single nucleotide variant (missense variant +2 more)	Progressive myoclonic epilepsy	GUncertain significance
Select item 669369	NM_004287.5(GOSR2):c.39C>T (p.His13=)	GOSR2, LRRC37A2	Single nucleotide variant (synonymous variant +2 more)	Progressive myoclonic epilepsy +2 more	GLikely benign
Select item 205627	NM_004287.5(GOSR2):c.40G>A (p.Glu14Lys)	GOSR2, LRRC37A2 (E14K)	Single nucleotide variant (missense variant +2 more)	Progressive myoclonic epilepsy +2 more	GConflicting classifications of pathogenicity
Select item 652749	NM_004287.5(GOSR2):c.47A>C (p.Gln16Pro)	GOSR2, LRRC37A2 (Q16P)	Single nucleotide variant (missense variant +2 more)	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 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 1313643	NM_004287.5(GOSR2):c.53G>C (p.Cys18Ser)	GOSR2, LRRC37A2 (C18S)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 502256	NM_004287.5(GOSR2):c.55A>G (p.Met19Val)	GOSR2, LRRC37A2 (M19V +1 more)	Single nucleotide variant (missense variant +2 more)	Progressive myoclonic epilepsy +2 more	GUncertain significance
Select item 1464450	NM_004287.5(GOSR2):c.56T>C (p.Met19Thr)	GOSR2, LRRC37A2 (M19T +1 more)	Single nucleotide variant (missense variant +2 more)	Progressive myoclonic epilepsy	GUncertain significance
Select item 195214	NM_004287.5(GOSR2):c.57G>A (p.Met19Ile)	GOSR2, LRRC37A2 (M19I +1 more)	Single nucleotide variant (missense variant +2 more)	Progressive myoclonic epilepsy +2 more	GUncertain significance
Select item 697994	NM_004287.5(GOSR2):c.64C>T (p.Leu22=)	LRRC37A2, GOSR2	Single nucleotide variant (synonymous variant +1 more)	Progressive myoclonic epilepsy +1 more	GConflicting classifications of pathogenicity
Select item 405438	NM_004287.5(GOSR2):c.68A>G (p.Glu23Gly)	LRRC37A2, GOSR2 (E23G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 568150	NM_004287.5(GOSR2):c.71C>T (p.Thr24Met)	GOSR2, LRRC37A2 (T24M +1 more)	Single nucleotide variant (missense variant +1 more)	Progressive myoclonic epilepsy	GUncertain significance
Select item 377929	NM_004287.5(GOSR2):c.72G>A (p.Thr24=)	GOSR2, LRRC37A2	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GLikely benign
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 405439	NM_004287.5(GOSR2):c.77A>G (p.Asp26Gly)	GOSR2, LRRC37A2 (D26G +1 more)	Single nucleotide variant (missense variant +1 more)	Progressive myoclonic epilepsy	GUncertain significance
Select item 1034620	NM_004287.5(GOSR2):c.79A>C (p.Lys27Gln)	LRRC37A2, GOSR2 (K27Q +1 more)	Single nucleotide variant (missense variant +1 more)	Progressive myoclonic epilepsy	GUncertain significance
Select item 955696	NM_004287.5(GOSR2):c.80A>G (p.Lys27Arg)	GOSR2, LRRC37A2 (K9R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 983499	NM_004287.5(GOSR2):c.82C>T (p.Gln28Ter)	LRRC37A2, GOSR2 (Q10* +1 more)	Single nucleotide variant (nonsense +1 more)	Progressive myoclonic epilepsy +1 more	GPathogenic
Select item 376884	NM_004287.5(GOSR2):c.83A>C (p.Gln28Pro)	GOSR2, LRRC37A2 (Q28P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1073493	NM_004287.5(GOSR2):c.89_90del (p.Val30fs)	GOSR2, LRRC37A2 (V12fs +1 more)	Microsatellite (frameshift variant +1 more)	Progressive myoclonic epilepsy	GPathogenic
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 1039571	NM_004287.5(GOSR2):c.94A>G (p.Ile32Val)	GOSR2, LRRC37A2 (I32V +1 more)	Single nucleotide variant (missense variant +1 more)	Progressive myoclonic epilepsy	GUncertain significance
Select item 560643	NM_004287.5(GOSR2):c.94+2T>G	GOSR2, LRRC37A2	Single nucleotide variant (splice donor variant)	developmental delay with absent seizures	GUncertain significance
Select item 205633	NM_004287.5(GOSR2):c.94+4A>G	GOSR2, LRRC37A2	Single nucleotide variant (intron variant)	not provided +2 more	GUncertain significance
Select item 1368405	NM_004287.5(GOSR2):c.94+5G>A	GOSR2, LRRC37A2	Single nucleotide variant (intron variant)	Muscular dystrophy, congenital, with or without seizures +1 more	GUncertain significance
Select item 695955	NM_004287.5(GOSR2):c.94+7A>C	GOSR2, LRRC37A2	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy type 6 +2 more	GConflicting classifications of pathogenicity
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 387651	NM_004287.5(GOSR2):c.94+12A>G	GOSR2, LRRC37A2	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 419969	NM_004287.5(GOSR2):c.94+16_94+17del	GOSR2, LRRC37A2	Microsatellite (intron variant)	Progressive myoclonic epilepsy +1 more	GLikely benign
Select item 1594447	NM_004287.5(GOSR2):c.94+15G>A	GOSR2, LRRC37A2	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy	GLikely benign
Select item 1221430	NM_004287.5(GOSR2):c.94+153T>G	GOSR2, LRRC37A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 668838	NM_004287.5(GOSR2):c.94+257C>G	GOSR2, LRRC37A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683278	NM_004287.5(GOSR2):c.94+263A>G	GOSR2, LRRC37A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 385916	NM_004287.5(GOSR2):c.95-17T>C	GOSR2, LOC126862578 +1 more	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy +1 more	GBenign/Likely benign
Select item 1109799	NM_004287.5(GOSR2):c.95-7T>C	GOSR2, LOC126862578 +1 more	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy	GLikely benign
Select item 1088634	NM_004287.5(GOSR2):c.95-7T>G	GOSR2, LOC126862578 +1 more	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy	GLikely benign

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