ClinVar for Gene (Select 758) - ClinVar

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Links from Gene

Items: 67

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3295747	NM_001044370.2(MPPED1):c.143A>G (p.Asp48Gly)	MPPED1 (D48G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295746	NM_001044370.2(MPPED1):c.935T>C (p.Val312Ala)	MPPED1 (V312A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295744	NM_001044370.2(MPPED1):c.11C>G (p.Ser4Cys)	MPPED1 (S4C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295743	NM_001044370.2(MPPED1):c.887C>T (p.Thr296Met)	MPPED1 (T296M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295742	NM_001044370.2(MPPED1):c.94G>A (p.Val32Met)	MPPED1 (V32M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203154	NM_001044370.2(MPPED1):c.823G>A (p.Val275Ile)	MPPED1 (V275I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203139	NM_001044370.2(MPPED1):c.601G>A (p.Val201Met)	MPPED1 (V201M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203127	NM_001044370.2(MPPED1):c.311C>A (p.Pro104His)	MPPED1 (P104H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203121	NM_001044370.2(MPPED1):c.158A>G (p.Asn53Ser)	MPPED1 (N53S)	Single nucleotide variant (missense variant)	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 2672923	GRCh37/hg19 22q13.2-13.33(chr22:43820992-51218654)x1	ACR, ADM2 +71 more	Copy number loss	not provided	GPathogenic
Select item 2511631	NM_001044370.2(MPPED1):c.715G>A (p.Val239Ile)	MPPED1 (V239I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339101	NM_001044370.2(MPPED1):c.341T>G (p.Ile114Ser)	MPPED1 (I114S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334025	NM_001044370.2(MPPED1):c.131T>C (p.Ile44Thr)	MPPED1 (I44T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317906	NM_001044370.2(MPPED1):c.415C>T (p.Pro139Ser)	MPPED1 (P139S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274037	NM_001044370.2(MPPED1):c.21T>G (p.Asp7Glu)	MPPED1 (D7E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268123	NM_001044370.2(MPPED1):c.749G>T (p.Gly250Val)	MPPED1 (G250V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247468	NM_001044370.2(MPPED1):c.64G>A (p.Gly22Ser)	MPPED1 (G22S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226570	NM_001044370.2(MPPED1):c.941C>T (p.Pro314Leu)	MPPED1 (P314L)	Single nucleotide variant (missense variant)	not specified	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 1526741	GRCh37/hg19 22q13.2(chr22:43648038-43980420)	EFCAB6, MPPED1 +1 more	Copy number gain	not specified	GUncertain significance
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 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 979609	GRCh37/hg19 22q13.2-13.31(chr22:43471921-44241041)x1	BIK, TSPO +7 more	Copy number loss	not provided	GUncertain significance
Select item 976862	NC_000022.11:g.43032129_50739836del	CRELD2, DENND6B +471 more	Deletion	Phelan-McDermid syndrome	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 816229	GRCh37/hg19 22q13.2(chr22:43853919-43920908)x1	MPPED1	Copy number loss	not provided	GUncertain significance
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 443581	GRCh37/hg19 22q13.2-13.33(chr22:43050743-51197838)x1	A4GALT, ACR +79 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 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 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 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 57669	GRCh38/hg38 22q13.2-13.33(chr22:42826246-50739836)x1	LOC130067640, LOC130067641 +483 more	Copy number loss	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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Germline classification

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Links from Gene

Items: 67