ClinVar for Gene (Select 285877) - ClinVar

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Links from Gene

Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3216702	NM_182595.4(POM121L12):c.85C>G (p.Leu29Val)	POM121L12 (L29V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216701	NM_182595.4(POM121L12):c.797A>G (p.Asp266Gly)	POM121L12 (D266G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216700	NM_182595.4(POM121L12):c.778G>C (p.Ala260Pro)	POM121L12 (A260P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216699	NM_182595.4(POM121L12):c.688G>A (p.Val230Met)	POM121L12 (V230M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216698	NM_182595.4(POM121L12):c.46T>A (p.Trp16Arg)	POM121L12 (W16R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216697	NM_182595.4(POM121L12):c.407C>T (p.Pro136Leu)	POM121L12 (P136L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216696	NM_182595.4(POM121L12):c.314A>G (p.Glu105Gly)	POM121L12 (E105G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216695	NM_182595.4(POM121L12):c.292A>G (p.Arg98Gly)	POM121L12 (R98G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216694	NM_182595.4(POM121L12):c.291G>T (p.Trp97Cys)	POM121L12 (W97C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616962	NM_182595.4(POM121L12):c.302C>T (p.Ala101Val)	POM121L12 (A101V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612813	NM_182595.4(POM121L12):c.700G>C (p.Gly234Arg)	POM121L12 (G234R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461694	NM_182595.4(POM121L12):c.626A>T (p.Asn209Ile)	POM121L12 (N209I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394588	NM_182595.4(POM121L12):c.651C>A (p.Phe217Leu)	POM121L12 (F217L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353507	NM_182595.4(POM121L12):c.208C>T (p.Arg70Cys)	POM121L12 (R70C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353329	NM_182595.4(POM121L12):c.73G>A (p.Gly25Ser)	POM121L12 (G25S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353328	NM_182595.4(POM121L12):c.116C>A (p.Thr39Lys)	POM121L12 (T39K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337754	NM_182595.4(POM121L12):c.573G>T (p.Arg191Ser)	POM121L12 (R191S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333032	NM_182595.4(POM121L12):c.248C>A (p.Thr83Asn)	POM121L12 (T83N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321115	NM_182595.4(POM121L12):c.488G>T (p.Arg163Leu)	POM121L12 (R163L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318023	NM_182595.4(POM121L12):c.500A>G (p.Gln167Arg)	POM121L12 (Q167R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285663	NM_182595.4(POM121L12):c.365G>T (p.Gly122Val)	POM121L12 (G122V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253128	NM_182595.4(POM121L12):c.800T>C (p.Phe267Ser)	POM121L12 (F267S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252170	NM_182595.4(POM121L12):c.81C>A (p.Asp27Glu)	POM121L12 (D27E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246502	NM_182595.4(POM121L12):c.662G>C (p.Ser221Thr)	POM121L12 (S221T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239080	NM_182595.4(POM121L12):c.478C>A (p.Pro160Thr)	POM121L12 (P160T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222722	NM_182595.4(POM121L12):c.598G>A (p.Val200Ile)	POM121L12 (V200I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2211037	NM_182595.4(POM121L12):c.656C>T (p.Pro219Leu)	POM121L12 (P219L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 979752	GRCh37/hg19 7p12.1(chr7:52613138-53359876)x3	POM121L12	Copy number gain	not provided	GUncertain significance
Select item 979751	GRCh37/hg19 7p12.1(chr7:51669019-53650344)x3	POM121L12	Copy number gain	not provided	GUncertain significance
Select item 814975	GRCh37/hg19 7p12.1-11.2(chr7:52347289-54556880)x3	POM121L12, HPVC1	Copy number gain	not provided	GUncertain significance
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 685442	GRCh37/hg19 7p12.1-11.1(chr7:52809787-58025873)x1	CCT6A, CHCHD2 +17 more	Copy number loss	not provided	GUncertain significance
Select item 548981	GRCh37/hg19 7p12.1(chr7:52201059-53214203)x3	POM121L12	Copy number gain	See cases	GUncertain significance
Select item 545348	Single allele	CCT6A, CHCHD2 +95 more	Duplication	Autism	GLikely pathogenic
Select item 443915	GRCh37/hg19 7p12.1(chr7:52200934-53217233)x3	POM121L12	Copy number gain	See cases	GUncertain significance
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 242972	NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv	ARMC10, ASB4 +504 more	Inversion	Childhood apraxia of speech	GPathogenic
Select item 146855	GRCh38/hg38 7p14.1-11.2(chr7:40534157-56107122)x1	ABCA13, ADCY1 +426 more	Copy number loss	See cases	GPathogenic
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	LOC121740684, LOC121740685 +4735 more	Copy number loss	See cases	GPathogenic
Select item 145645	GRCh38/hg38 7p13-12.1(chr7:44571949-53699760)x1	ABCA13, ADCY1 +200 more	Copy number loss	See cases	GPathogenic
Select item 59680	GRCh38/hg38 7p14.3-q11.21(chr7:33328312-62377476)x3	LOC129389795, LOC129389796 +636 more	Copy number gain	See cases	GPathogenic
Select item 59596	GRCh38/hg38 7p12.1-11.2(chr7:52192528-57823293)x3	CCT6A, CHCHD2 +107 more	Copy number gain	See cases	GUncertain significance
Select item 58866	GRCh38/hg38 7p12.1-11.2(chr7:52114454-57434735)x1	CCT6A, CHCHD2 +107 more	Copy number loss	See cases	GUncertain significance

ClinVar

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Links from Gene

Items: 47