29622[HGNC] - ClinVar

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Items: 78

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC130067403, LOC130067404 +2088 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 145111	GRCh38/hg38 22q13.1-13.33(chr22:40202014-50735806)x3	LOC130067596, LOC130067597 +687 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 154688	GRCh38/hg38 22q13.2-13.33(chr22:42080077-50739836)x3	LOC126863184, LOC126863185 +541 more	Copy number gain	See cases	GPathogenic
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 153178	GRCh38/hg38 22q13.2-13.33(chr22:42380961-50759410)x3	LOC126863187, LOC126863188 +523 more	Copy number gain	See cases	GPathogenic
Select item 57636	GRCh38/hg38 22q13.2-13.33(chr22:42433752-50738932)x1	A4GALT, ACR +521 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 57944	GRCh38/hg38 22q13.2-13.33(chr22:42599757-50725241)x3	A4GALT, ADM2 +502 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 148050	GRCh38/hg38 22q13.2-13.33(chr22:42710276-50739836)x3	CIMAP1B, CPT1B +492 more	Copy number gain	See cases	GPathogenic
Select item 57669	GRCh38/hg38 22q13.2-13.33(chr22:42826246-50739836)x1	LOC130067640, LOC130067641 +483 more	Copy number loss	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 976862	NC_000022.11:g.43032129_50739836del	CRELD2, DENND6B +471 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 784422	NM_173467.5(MCAT):c.1161G>T (p.Glu387Asp)	MCAT (E387D)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GBenign
Select item 716517	NM_173467.5(MCAT):c.1128G>C (p.Gln376His)	MCAT (Q376H)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GBenign
Select item 2495252	NM_173467.5(MCAT):c.1088T>C (p.Met363Thr)	MCAT (M363T)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3124173	NM_173467.5(MCAT):c.1064G>A (p.Gly355Glu)	MCAT (G355E)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 1298898	NM_173467.5(MCAT):c.1039G>A (p.Glu347Lys)	MCAT (E347K)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 3124172	NM_173467.5(MCAT):c.1003G>A (p.Glu335Lys)	MCAT (E335K)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2569175	NM_173467.5(MCAT):c.845C>T (p.Thr282Met)	MCAT (T282M)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3124176	NM_173467.5(MCAT):c.829G>A (p.Ala277Thr)	MCAT (A277T)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2628320	NM_173467.5(MCAT):c.823G>A (p.Glu275Lys)	MCAT	Single nucleotide variant (3 prime UTR variant +2 more)	Optic atrophy 15	GPathogenic
Select item 2628321	NM_173467.5(MCAT):c.812C>T (p.Thr271Ile)	MCAT (T271I)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 3124175	NM_173467.5(MCAT):c.778A>G (p.Thr260Ala)	MCAT (T260A)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GLikely benign
Select item 2653262	NM_173467.5(MCAT):c.775C>T (p.Arg259Cys)	MCAT (R259C)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +1 more	GUncertain significance
Select item 786385	NM_173467.5(MCAT):c.711G>C (p.Val237=)	MCAT	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2355611	NM_173467.5(MCAT):c.679G>A (p.Val227Met)	MCAT (V227M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2409185	NM_173467.5(MCAT):c.653T>C (p.Leu218Ser)	MCAT (L218S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2229114	NM_173467.5(MCAT):c.635G>A (p.Arg212Gln)	MCAT (R212Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2661893	NM_173467.5(MCAT):c.634C>T (p.Arg212Trp)	MCAT	Single nucleotide variant (missense variant +1 more)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 2628318	NM_173467.5(MCAT):c.[242T>G;634C>T]	MCAT	Single nucleotide variant (missense variant +2 more)	Optic atrophy 15	GPathogenic
Select item 2653263	NM_173467.5(MCAT):c.511+76A>G	MCAT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2628319	NM_173467.5(MCAT):c.424-2A>G	MCAT	Single nucleotide variant (splice acceptor variant)	Optic atrophy 15	GPathogenic
Select item 3124174	NM_173467.5(MCAT):c.328C>T (p.Pro110Ser)	MCAT (P110S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2455836	NM_173467.5(MCAT):c.289G>T (p.Val97Leu)	MCAT (V97L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2661894	NM_173467.5(MCAT):c.242T>G (p.Leu81Arg)	MCAT	Single nucleotide variant (missense variant +1 more)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 1695049	NM_173467.5(MCAT):c.235C>G (p.Arg79Gly)	MCAT (R79G)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2541913	NM_173467.5(MCAT):c.206G>C (p.Gly69Ala)	MCAT (G69A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2411023	NM_173467.5(MCAT):c.176C>T (p.Pro59Leu)	LOC130067629, MCAT (P59L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2360270	NM_173467.5(MCAT):c.122A>T (p.Asp41Val)	LOC130067629, MCAT (D41V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2598133	NM_173467.5(MCAT):c.20G>C (p.Arg7Pro)	LOC130067629, MCAT (R7P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2610313	NM_173467.5(MCAT):c.7G>A (p.Val3Ile)	LOC130067629, MCAT (V3I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 2684938	GRCh37/hg19 22q13.2(chr22:43225115-43777477)x3	ARFGAP3, BIK +6 more	Copy number gain	not provided	GUncertain significance
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 1341218	GRCh37/hg19 22q13.2(chr22:42955615-43866280)x1	A4GALT, ARFGAP3 +12 more	Copy number loss	not provided	GUncertain significance
Select item 1341047	GRCh37/hg19 22q13.2(chr22:43474124-44159427)x3	BIK, EFCAB6 +6 more	Copy number gain	not provided	GUncertain significance
Select item 1330161	GRCh37/hg19 22q13.2-13.33(chr22:42321321-51244066)x1	A4GALT, ACR +96 more	Copy number loss	Phelan-McDermid syndrome	GPathogenic
Select item 1077183	Single allele	A4GALT, ARFGAP3 +19 more	Deletion	Developmental delay with variable intellectual impairment and behavioral abnormalities	GPathogenic
Select item 997819	Single allele	BIK, BRD1 +94 more	Deletion	Intellectual disability	GPathogenic
Select item 997811	Single allele	WBP2NL, ARFGAP3 +21 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 979609	GRCh37/hg19 22q13.2-13.31(chr22:43471921-44241041)x1	BIK, TSPO +7 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 685140	GRCh37/hg19 22q13.2(chr22:42724042-43879561)x3	A4GALT, ARFGAP3 +14 more	Copy number gain	not provided	GUncertain significance
Select item 625737	GRCh37/hg19 22q13.2-13.33(chr22:42416026-51181759)	A4GALT, ACR +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 564990	GRCh37/hg19 22q13.2(chr22:43472147-43723031)x3	TSPO, MCAT +4 more	Copy number gain	not provided	GLikely benign
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 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

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Items: 78