ClinVar for Gene (Select 51074) - ClinVar

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Links from Gene

Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3338423	Single allele	APIP, CD44 +74 more	Duplication	11p13 microduplication syndrome	GUncertain significance
Select item 3306557	NM_015957.4(APIP):c.664G>A (p.Val222Ile)	APIP (V222I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3127825	NM_015957.4(APIP):c.473T>C (p.Met158Thr)	APIP (M158T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127824	NM_015957.4(APIP):c.26G>C (p.Gly9Ala)	APIP, LOC130005547 +1 more (G9A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127823	NM_015957.4(APIP):c.160G>A (p.Asp54Asn)	APIP (D54N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3127822	NM_015957.4(APIP):c.139G>C (p.Gly47Arg)	APIP (G47R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2776141	NM_015957.4(APIP):c.461+6_461+7insG	APIP	Insertion (intron variant)	not provided	GLikely benign
Select item 2776140	NM_015957.4(APIP):c.461+11_461+12del	APIP	Deletion (intron variant)	not provided	GBenign
Select item 2596130	NM_015957.4(APIP):c.563G>A (p.Cys188Tyr)	APIP (C188Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465039	NM_015957.4(APIP):c.308A>G (p.Asn103Ser)	APIP (N103S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374586	NM_015957.4(APIP):c.200G>A (p.Arg67Gln)	APIP (R67Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333536	NM_015957.4(APIP):c.376C>G (p.Leu126Val)	APIP (L126V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245102	NM_015957.4(APIP):c.716A>G (p.Asn239Ser)	APIP (N239S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210173	NM_015957.4(APIP):c.197A>C (p.Glu66Ala)	APIP (E66A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807696	GRCh37/hg19 11p13-12(chr11:31372721-38259316)x1	ABTB2, APIP +40 more	Copy number loss	not provided	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1527636	GRCh37/hg19 11p13-12(chr11:34189942-36857171)	ABTB2, APIP +16 more	Copy number gain	not specified	GUncertain significance
Select item 1527635	GRCh37/hg19 11p13-12(chr11:32782607-36404823)	ABTB2, APIP +26 more	Copy number gain	not specified	GUncertain significance
Select item 1329013	NM_015957.4(APIP):c.-95G>C	PDHX, APIP +1 more	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 1252351	NM_015957.4(APIP):c.57+174T>A	APIP, LOC130005547 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 880153	NM_015957.4(APIP):c.57+91G>T	APIP, LOC130005547 +1 more	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E3-binding protein deficiency	GLikely benign
Select item 877365	NM_015957.4(APIP):c.-30T>C	APIP, LOC130005547 +1 more	Single nucleotide variant (5 prime UTR variant)	Pyruvate dehydrogenase E3-binding protein deficiency	GLikely benign
Select item 877364	NM_015957.4(APIP):c.57+57C>G	APIP, LOC130005547 +1 more	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E3-binding protein deficiency	GUncertain significance
Select item 688898	GRCh37/hg19 11p14.3-13(chr11:22079154-35597645)x1	ABTB2, ANO3 +55 more	Copy number loss	not provided	GPathogenic
Select item 688816	GRCh37/hg19 11p13(chr11:34839227-35031978)x3	APIP, PDHX	Copy number gain	not provided	GUncertain significance
Select item 685267	GRCh37/hg19 11p13-12(chr11:34183318-36860753)x3	ABTB2, APIP +16 more	Copy number gain	not provided	GUncertain significance
Select item 683422	NM_015957.4(APIP):c.57+289C>G	PDHX, APIP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683419	NM_015957.4(APIP):c.57+359C>T	APIP, PDHX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683416	NM_015957.4(APIP):c.57+412G>A	APIP, PDHX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441893	GRCh37/hg19 11p14.3-13(chr11:25771208-35614978)x1	ABTB2, ANO3 +48 more	Copy number loss	See cases	GPathogenic
Select item 441715	GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3	ART5, CCDC34 +364 more	Copy number gain	See cases	GPathogenic
Select item 441612	GRCh37/hg19 11p14.1-12(chr11:27588560-41770792)x1	ABTB2, APIP +50 more	Copy number loss	See cases	GPathogenic
Select item 395339	GRCh37/hg19 11p13(chr11:31210842-35436121)x1	ABTB2, APIP +30 more	Copy number loss	See cases	GPathogenic
Select item 304450	NM_015957.4(APIP):c.-70T>C	APIP, LOC130005547 +1 more	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 304449	NM_015957.4(APIP):c.-53C>T	APIP, LOC130005547 +1 more	Single nucleotide variant (5 prime UTR variant)	Pyruvate dehydrogenase E3-binding protein deficiency +1 more	GBenign
Select item 304448	NM_015957.4(APIP):c.-18G>A	APIP, LOC130005547 +1 more	Single nucleotide variant (5 prime UTR variant)	Pyruvate dehydrogenase E3-binding protein deficiency	GUncertain significance
Select item 304447	NM_015957.4(APIP):c.-14C>T	APIP, LOC130005547 +1 more	Single nucleotide variant (5 prime UTR variant)	Pyruvate dehydrogenase E3-binding protein deficiency	GUncertain significance
Select item 304446	NM_015957.4(APIP):c.-1C>T	APIP, LOC130005547 +1 more	Single nucleotide variant (5 prime UTR variant)	Pyruvate dehydrogenase E3-binding protein deficiency	GUncertain significance
Select item 304445	NM_015957.4(APIP):c.19C>T (p.Arg7Trp)	APIP, LOC130005547 +1 more (R7W)	Single nucleotide variant (missense variant)	Pyruvate dehydrogenase E3-binding protein deficiency +1 more	GBenign
Select item 304444	NM_015957.4(APIP):c.57+77C>T	APIP, LOC130005547 +1 more	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E3-binding protein deficiency +1 more	GBenign
Select item 304443	NM_015957.4(APIP):c.57+78A>G	APIP, LOC130005547 +1 more	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E3-binding protein deficiency +1 more	GBenign
Select item 253513	GRCh37/hg19 11p14.1-12(chr11:30615127-40606139)x1	ABTB2, APIP +41 more	Copy number loss	See cases	GPathogenic
Select item 154920	GRCh38/hg38 11p13-12(chr11:34168931-36820798)x3	ABTB2, APIP +100 more	Copy number gain	See cases	GUncertain significance
Select item 145969	GRCh38/hg38 11p14.2-13(chr11:26368962-35252976)x1	LOC129390275, LOC129390276 +255 more	Copy number loss	See cases	GPathogenic
Select item 59751	GRCh38/hg38 11p13-12(chr11:34161694-36799127)x3	ABTB2, APIP +100 more	Copy number gain	See cases	GPathogenic
Select item 58858	GRCh38/hg38 11p14.3-12(chr11:22550115-38199159)x1	PAX6_HS3, PAX6_HS8 +334 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 49