ClinVar for Gene (Select 55007) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3511539	NM_017911.4(FAM118A):c.275A>G (p.His92Arg)	FAM118A (H93R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3511538	NM_017911.4(FAM118A):c.254G>A (p.Arg85Gln)	FAM118A (R85Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3511537	NM_017911.4(FAM118A):c.798G>C (p.Glu266Asp)	FAM118A (E266D +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3511536	NM_017911.4(FAM118A):c.124G>A (p.Val42Met)	FAM118A (V42M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3511533	NM_017911.4(FAM118A):c.520A>G (p.Lys174Glu)	FAM118A (K175E +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3511532	NM_017911.4(FAM118A):c.475C>T (p.Arg159Trp)	FAM118A (R159W +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3511531	NM_017911.4(FAM118A):c.521A>G (p.Lys174Arg)	FAM118A (K174R +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3511530	NM_017911.4(FAM118A):c.220G>A (p.Val74Ile)	FAM118A (V74I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3511529	NM_017911.4(FAM118A):c.518C>T (p.Thr173Ile)	FAM118A (T174I +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3511528	NM_017911.4(FAM118A):c.1064G>C (p.Gly355Ala)	FAM118A (G355A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3391942	GRCh37/hg19 22q13.2-13.33(chr22:43451317-50307583)x1	ALG12, ARHGAP8 +44 more	Copy number loss	not provided	GPathogenic
Select item 3277111	NM_017911.4(FAM118A):c.233G>A (p.Arg78Gln)	FAM118A (R78Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3277110	NM_017911.4(FAM118A):c.242T>C (p.Val81Ala)	FAM118A (V82A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3091719	NM_017911.4(FAM118A):c.886C>G (p.Pro296Ala)	FAM118A (P222A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3091718	NM_017911.4(FAM118A):c.70C>T (p.Arg24Trp)	FAM118A (R38W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3091717	NM_017911.4(FAM118A):c.52T>G (p.Phe18Val)	FAM118A (F19V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3091716	NM_017911.4(FAM118A):c.442A>C (p.Asn148His)	FAM118A (N149H +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3091714	NM_017911.4(FAM118A):c.1025T>G (p.Val342Gly)	FAM118A (V342G +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062463	GRCh37/hg19 22q13.2-13.31(chr22:43920110-46548382)x1	ARHGAP8, ATXN10 +24 more	Copy number loss	not specified	GLikely pathogenic
Select item 3062451	GRCh37/hg19 22q13.2-13.33(chr22:43107363-51156692)x1	A4GALT, ADM2 +78 more	Copy number loss	not specified	GPathogenic
Select item 3062450	GRCh37/hg19 22q13.1-13.31(chr22:39044105-45794212)x3	A4GALT, ACO2 +106 more	Copy number gain	not specified	GPathogenic
Select item 3062449	GRCh37/hg19 22q13.2-13.33(chr22:44034281-51197838)x1	ACR, ADM2 +69 more	Copy number loss	not specified	GPathogenic
Select item 3062442	GRCh37/hg19 22q13.31-13.33(chr22:44502872-51183871)x1	CELSR1, CERK +64 more	Copy number loss	not specified	GPathogenic
Select item 3062348	GRCh38/hg38 22q13.31-13.33(chr22:44549957-50789329)	LOC105377205, LOC107181287 +404 more	Copy number loss	Phelan-McDermid syndrome	GPathogenic
Select item 2685682	GRCh37/hg19 22q13.31-13.33(chr22:45611226-51197838)x1	CELSR1, CERK +55 more	Copy number loss	not provided	GPathogenic
Select item 2684939	GRCh37/hg19 22q13.31-13.33(chr22:45657164-51197838)x3	ACR, ADM2 +54 more	Copy number gain	not provided	GPathogenic
Select item 2672923	GRCh37/hg19 22q13.2-13.33(chr22:43820992-51218654)x1	ACR, ADM2 +71 more	Copy number loss	not provided	GPathogenic
Select item 2653284	NM_017911.4(FAM118A):c.168C>T (p.Ile56=)	FAM118A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2599927	NM_017911.4(FAM118A):c.214G>A (p.Gly72Arg)	FAM118A (G72R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2549385	NM_017911.4(FAM118A):c.514A>G (p.Lys172Glu)	FAM118A (K172E +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2518462	NM_017911.4(FAM118A):c.461A>T (p.Glu154Val)	FAM118A (E154V +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2468774	NM_017911.4(FAM118A):c.253C>T (p.Arg85Trp)	FAM118A (R99W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2458526	NM_017911.4(FAM118A):c.844G>A (p.Gly282Arg)	FAM118A (G282R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2456025	NM_017911.4(FAM118A):c.376C>T (p.Arg126Trp)	FAM118A (R127W +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2455740	NM_017911.4(FAM118A):c.175G>A (p.Val59Ile)	FAM118A (V73I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2373213	NM_017911.4(FAM118A):c.133G>A (p.Gly45Arg)	FAM118A (G45R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2364297	NM_017911.4(FAM118A):c.616G>A (p.Gly206Arg)	FAM118A (G206R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2355709	NM_017911.4(FAM118A):c.226G>A (p.Glu76Lys)	FAM118A (E76K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2351679	NM_017911.4(FAM118A):c.1024G>A (p.Val342Ile)	FAM118A (V356I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2313692	NM_017911.4(FAM118A):c.991G>T (p.Ala331Ser)	FAM118A (A331S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2308958	NM_017911.4(FAM118A):c.382C>G (p.Pro128Ala)	FAM118A (P129A +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1808266	GRCh37/hg19 22q13.31-13.33(chr22:44390702-51137629)x1	ADM2, ALG12 +64 more	Copy number loss	not provided	GPathogenic
Select item 1807817	GRCh37/hg19 22q13.2-13.33(chr22:44178749-51183840)x1	ACR, ADM2 +69 more	Copy number loss	not provided	GPathogenic
Select item 1803808	GRCh37/hg19 22q13.2-13.33(chr22:43436847-51188164)x3	MIOX, MPPED1 +76 more	Copy number gain	not provided	GPathogenic
Select item 1526739	GRCh37/hg19 22q13.2-13.31(chr22:43451316-46662660)	ARHGAP8, ATXN10 +33 more	Copy number loss	not specified	GPathogenic
Select item 1526738	GRCh37/hg19 22q13.2-13.33(chr22:42972719-51197838)	A4GALT, ACR +82 more	Copy number loss	not specified	GPathogenic
Select item 1330161	GRCh37/hg19 22q13.2-13.33(chr22:42321321-51244066)x1	ARFGAP3, ARHGAP8 +96 more	Copy number loss	Phelan-McDermid syndrome	GPathogenic
Select item 997819	Single allele	BIK, BRD1 +94 more	Deletion	Intellectual disability	GPathogenic
Select item 983188	GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 979612	GRCh37/hg19 22q13.31(chr22:44649786-45866882)x3	PRR5, RIBC2 +10 more	Copy number gain	not provided	GUncertain significance
Select item 976876	NC_000022.11:g.44702479_50806138del	KLHDC7B-DT, LOC130067710 +401 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 976875	NC_000022.11:g.44245760_50806121del	LOC130067855, LOC130067856 +411 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 976870	NC_000022.11:g.43802117_50806121del	LOC126863169, LOC130067753 +443 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 976862	NC_000022.11:g.43032129_50739836del	EFCAB6-DT, LOC130067654 +471 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 932299	Single allele	ATXN10, BRD1 +45 more	Copy number loss	22q13.3 interstitial deletion	GPathogenic
Select item 816567	GRCh37/hg19 22q13.31(chr22:45553562-45857232)x1	FAM118A, UPK3A +4 more	Copy number loss	not provided	GUncertain significance
Select item 816565	GRCh37/hg19 22q13.1-13.33(chr22:40502364-51197838)x3	A4GALT, ACO2 +126 more	Copy number gain	not provided	GPathogenic
Select item 816216	GRCh37/hg19 22q12.2-13.33(chr22:30654764-51197838)x3	CERK, CHADL +271 more	Copy number gain	not provided	GPathogenic
Select item 685636	GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3	TUBA8, TUBGCP6 +435 more	Copy number gain	not provided	GPathogenic
Select item 625738	GRCh37/hg19 22q13.31-13.33(chr22:45075720-51181759)	ACR, ADM2 +60 more	Copy number loss	not provided	GPathogenic
Select item 625737	GRCh37/hg19 22q13.2-13.33(chr22:42416026-51181759)	KIAA0930, KLHDC7B +92 more	Copy number loss	Phelan-McDermid syndrome	GPathogenic
Select item 565054	GRCh37/hg19 22q13.2-13.33(chr22:42955616-51183840)x1	A4GALT, ACR +83 more	Copy number loss	not provided	GPathogenic
Select item 565053	GRCh37/hg19 22q13.2-13.33(chr22:43111156-51183840)x1	A4GALT, ACR +79 more	Copy number loss	not provided	GPathogenic
Select item 565052	GRCh37/hg19 22q13.2-13.33(chr22:43320284-51183840)x1	ACR, ADM2 +77 more	Copy number loss	not provided	GPathogenic
Select item 565051	GRCh37/hg19 22q13.31-13.33(chr22:44789956-51183840)x1	ACR, ADM2 +61 more	Copy number loss	not provided	GPathogenic
Select item 443581	GRCh37/hg19 22q13.2-13.33(chr22:43050743-51197838)x1	A4GALT, ACR +79 more	Copy number loss	See cases	GPathogenic
Select item 443057	GRCh37/hg19 22q13.31-13.33(chr22:45261208-51197838)x1	ACR, ADM2 +57 more	Copy number loss	See cases	GPathogenic
Select item 442593	GRCh37/hg19 22q13.2-13.33(chr22:43875989-51197838)x1	ACR, ADM2 +70 more	Copy number loss	See cases	GPathogenic
Select item 441707	GRCh37/hg19 22q13.2-13.33(chr22:43381459-51197838)x1	ACR, ADM2 +77 more	Copy number loss	See cases	GPathogenic
Select item 441654	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)	ANKRD54, AP1B1 +435 more	Copy number gain	See cases	GPathogenic
Select item 441653	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3	NEFH, NF2 +435 more	Copy number gain	See cases	GPathogenic
Select item 441574	GRCh37/hg19 22q13.2-13.33(chr22:42441918-51197838)x1	A4GALT, ACR +91 more	Copy number loss	See cases	GPathogenic
Select item 395140	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3	ZNF280A, ZNF280B +438 more	Copy number gain	See cases	GPathogenic
Select item 394709	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3	SMARCB1, SMC1B +438 more	Copy number gain	See cases	GPathogenic
Select item 253617	GRCh37/hg19 22q12.3-13.33(chr22:35728929-51220961)x3	A4GALT, ACO2 +223 more	Copy number gain	See cases	GPathogenic
Select item 253559	GRCh37/hg19 22q13.1-13.33(chr22:40425714-51220961)x3	ADM2, A4GALT +128 more	Copy number gain	See cases	GPathogenic
Select item 253509	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 155419	GRCh38/hg38 22q13.31(chr22:44832749-46353315)x3	ARHGAP8, ATXN10 +105 more	Copy number gain	See cases	GUncertain significance
Select item 154688	GRCh38/hg38 22q13.2-13.33(chr22:42080077-50739836)x3	LOC126863184, LOC126863185 +541 more	Copy number gain	See cases	GPathogenic
Select item 153178	GRCh38/hg38 22q13.2-13.33(chr22:42380961-50759410)x3	LOC126863187, LOC126863188 +523 more	Copy number gain	See cases	GPathogenic
Select item 152914	GRCh38/hg38 22q13.2-13.33(chr22:42837094-50735806)x1	ADM2, ALG12 +481 more	Copy number loss	See cases	GPathogenic
Select item 152340	GRCh38/hg38 22q13.2-13.33(chr22:43187980-50745444)x1	ACR, ADM2 +451 more	Copy number loss	See cases	GPathogenic
Select item 148050	GRCh38/hg38 22q13.2-13.33(chr22:42710276-50739836)x3	CIMAP1B, CPT1B +492 more	Copy number gain	See cases	GPathogenic
Select item 147775	GRCh38/hg38 22q13.2-13.33(chr22:41871143-50739836)x1	A4GALT, ACR +580 more	Copy number loss	See cases	GPathogenic
Select item 147743	GRCh38/hg38 22q13.31-13.33(chr22:44764289-50739836)x1	ACR, ADM2 +396 more	Copy number loss	See cases	GPathogenic
Select item 147622	GRCh38/hg38 22q13.2-13.33(chr22:42493445-50268479)x1	A4GALT, ALG12 +428 more	Copy number loss	See cases	GPathogenic
Select item 147377	GRCh38/hg38 22q13.31-13.33(chr22:44797239-50739836)x3	ACR, ADM2 +396 more	Copy number gain	See cases	GPathogenic
Select item 146895	GRCh38/hg38 22q13.31-13.33(chr22:43992879-50683114)x3	ADM2, ALG12 +428 more	Copy number gain	See cases	GBenign
Select item 146215	GRCh38/hg38 22q13.2-13.31(chr22:42197923-47305564)x4	LOC130067605, LOC130067606 +303 more	Copy number gain	See cases	GPathogenic
Select item 146121	GRCh38/hg38 22q13.31-13.33(chr22:43902561-50739836)x1	ACR, ADM2 +434 more	Copy number loss	See cases	GPathogenic
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC130067403, LOC130067404 +2088 more	Copy number gain	See cases	GPathogenic
Select item 145111	GRCh38/hg38 22q13.1-13.33(chr22:40202014-50735806)x3	LOC130067596, LOC130067597 +687 more	Copy number gain	See cases	GPathogenic
Select item 144383	GRCh38/hg38 22q13.31-13.33(chr22:44606363-50739836)x1	ACR, ADM2 +401 more	Copy number loss	See cases	GPathogenic
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	IL17RA, LINC01640 +2088 more	Copy number gain	See cases	GPathogenic
Select item 57947	GRCh38/hg38 22q13.31-13.33(chr22:44811200-50739836)x3	LOC130067697, LOC130067698 +396 more	Copy number gain	See cases	GPathogenic
Select item 57945	GRCh38/hg38 22q13.2-13.33(chr22:42653747-50739836)x3	LOC126863187, LOC126863188 +495 more	Copy number gain	See cases	GPathogenic
Select item 57944	GRCh38/hg38 22q13.2-13.33(chr22:42599757-50725241)x3	A4GALT, ADM2 +502 more	Copy number gain	See cases	GPathogenic
Select item 57942	GRCh38/hg38 22q12.3-13.33(chr22:37061769-50738932)x3	LOC130067651, LOC130067652 +1004 more	Copy number gain	See cases	GPathogenic
Select item 57672	GRCh38/hg38 22q13.31-13.33(chr22:44740175-50739836)x1	ACR, ADM2 +396 more	Copy number loss	See cases	GPathogenic
Select item 57670	GRCh38/hg38 22q13.31-13.33(chr22:43807366-50739836)x1	ACR, ADM2 +441 more	Copy number loss	See cases	GPathogenic

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