ClinVar for Gene (Select 267020) - ClinVar

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Links from Gene

Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3248111	NC_000022.10:g.(?_42564659)_(43089957_?)dup	POLDIP3, A4GALT +6 more	Duplication	not provided	GUncertain significance
Select item 3131804	NM_001165877.1(ATP5MGL):c.85G>A (p.Ala29Thr)	ATP5MGL, CYB5R3 (A29T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3131803	NM_001165877.1(ATP5MGL):c.80T>C (p.Leu27Ser)	ATP5MGL, CYB5R3 (L27S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3131802	NM_001165877.1(ATP5MGL):c.79T>A (p.Leu27Met)	ATP5MGL, CYB5R3 (L27M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3131801	NM_001165877.1(ATP5MGL):c.287G>C (p.Arg96Pro)	ATP5MGL, CYB5R3 (R96P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3131800	NM_001165877.1(ATP5MGL):c.287G>A (p.Arg96His)	ATP5MGL, CYB5R3 (R96H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3131799	NM_001165877.1(ATP5MGL):c.217G>A (p.Ala73Thr)	ATP5MGL, CYB5R3 (A73T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3131798	NM_001165877.1(ATP5MGL):c.208G>A (p.Val70Ile)	ATP5MGL, CYB5R3 (V70I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3131797	NM_001165877.1(ATP5MGL):c.139C>T (p.Pro47Ser)	ATP5MGL, CYB5R3 (P47S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3131796	NM_001165877.1(ATP5MGL):c.139C>G (p.Pro47Ala)	ATP5MGL, CYB5R3 (P47A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 2653259	NM_001165877.1(ATP5MGL):c.300C>G (p.Gly100=)	ATP5MGL, CYB5R3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2486529	NM_001165877.1(ATP5MGL):c.103A>G (p.Thr35Ala)	ATP5MGL, CYB5R3 (T35A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2425394	NC_000022.10:g.(?_42456283)_(43089957_?)del	A4GALT, ATP5MGL +11 more	Deletion	not provided	GPathogenic
Select item 1808907	GRCh37/hg19 22q13.2(chr22:42765874-43059475)x3	ATP5MGL, CYB5R3 +4 more	Copy number gain	not provided	GUncertain significance
Select item 1526738	GRCh37/hg19 22q13.2-13.33(chr22:42972719-51197838)	A4GALT, ACR +82 more	Copy number loss	not specified	GPathogenic
Select item 1448665	NC_000022.10:g.(?_43015779)_(43089957_?)del	A4GALT, ATP5MGL +1 more	Deletion	not provided	GUncertain significance
Select item 1447656	NC_000022.10:g.(?_41277754)_(43089957_?)dup	ATP5MGL, CCDC134 +38 more	Duplication	Immunodeficiency, common variable, 4	GUncertain significance
Select item 1341218	GRCh37/hg19 22q13.2(chr22:42955615-43866280)x1	A4GALT, ARFGAP3 +12 more	Copy number loss	not provided	GUncertain significance
Select item 1330161	GRCh37/hg19 22q13.2-13.33(chr22:42321321-51244066)x1	MIOX, PPP6R2 +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 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)	ARHGAP8, CPT1B +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 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 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 147775	GRCh38/hg38 22q13.2-13.33(chr22:41871143-50739836)x1	A4GALT, ACR +580 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 146215	GRCh38/hg38 22q13.2-13.31(chr22:42197923-47305564)x4	LOC130067605, LOC130067606 +303 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 145111	GRCh38/hg38 22q13.1-13.33(chr22:40202014-50735806)x3	LOC130067596, LOC130067597 +687 more	Copy number gain	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 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 57636	GRCh38/hg38 22q13.2-13.33(chr22:42433752-50738932)x1	A4GALT, ACR +521 more	Copy number loss	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 49