118491[geneid] - ClinVar

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Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145481	GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3	A1CF, ADAMTS14 +902 more	Copy number gain	See cases	GPathogenic
Select item 148945	GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3	LOC129390180, LOC129390181 +1008 more	Copy number gain	See cases	GPathogenic
Select item 58726	GRCh38/hg38 10q21.1-22.2(chr10:58436466-74415216)x1	LOC129390190, LOC129390191 +610 more	Copy number loss	See cases	GPathogenic
Select item 147477	GRCh38/hg38 10q21.3-22.2(chr10:63402579-75296099)x1	HERC4, HK1 +514 more	Copy number loss	See cases	GPathogenic
Select item 146115	GRCh38/hg38 10q21.3-22.3(chr10:67196567-79422057)x3	LOC130004125, LOC130004126 +580 more	Copy number gain	See cases	GPathogenic
Select item 58745	GRCh38/hg38 10q22.1-22.2(chr10:72720628-75612374)x1	LOC130004132, LOC130004133 +150 more	Copy number loss	See cases	GPathogenic
Select item 2217079	NM_001367801.1(CFAP70):c.3245G>A (p.Arg1082Gln)	CFAP70, DNAJC9-AS1 (R1082Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523535	NM_001367801.1(CFAP70):c.2971A>T (p.Ser991Cys)	CFAP70, DNAJC9-AS1 (S799C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3143647	NM_001367801.1(CFAP70):c.2908G>A (p.Gly970Ser)	CFAP70, DNAJC9-AS1 (G970S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3143646	NM_001367801.1(CFAP70):c.2900G>A (p.Gly967Asp)	CFAP70, DNAJC9-AS1 (G775D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2546682	NM_001367801.1(CFAP70):c.2863G>T (p.Ala955Ser)	CFAP70, DNAJC9-AS1 (A763S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2239513	NM_001367801.1(CFAP70):c.2794T>G (p.Tyr932Asp)	CFAP70, DNAJC9-AS1 (Y740D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3143645	NM_001367801.1(CFAP70):c.2701C>T (p.His901Tyr)	CFAP70 (H901Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143644	NM_001367801.1(CFAP70):c.2660A>G (p.Tyr887Cys)	CFAP70 (Y695C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209273	NM_001367801.1(CFAP70):c.2647C>A (p.Pro883Thr)	CFAP70 (P813T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376371	NM_001367801.1(CFAP70):c.2621G>A (p.Cys874Tyr)	CFAP70 (C682Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277194	NM_001367801.1(CFAP70):c.2545T>C (p.Trp849Arg)	CFAP70 (W657R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324888	NM_001367801.1(CFAP70):c.2432A>G (p.Lys811Arg)	CFAP70 (K619R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143643	NM_001367801.1(CFAP70):c.2428A>G (p.Ile810Val)	CFAP70 (I618V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143642	NM_001367801.1(CFAP70):c.2408C>T (p.Thr803Ile)	CFAP70 (T611I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143641	NM_001367801.1(CFAP70):c.2345C>G (p.Thr782Ser)	CFAP70 (T712S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266518	NM_001367801.1(CFAP70):c.2276C>A (p.Ala759Glu)	CFAP70 (A567E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3352589	NM_001367801.1(CFAP70):c.2264G>A (p.Arg755Gln)	CFAP70 (R563Q +2 more)	Single nucleotide variant (missense variant)	CFAP70-related condition	GLikely benign
Select item 2216003	NM_001367801.1(CFAP70):c.2067A>C (p.Gln689His)	CFAP70 (Q497H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331010	NM_001367801.1(CFAP70):c.2024A>G (p.Tyr675Cys)	CFAP70 (Y483C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378064	NM_001367801.1(CFAP70):c.1838A>T (p.His613Leu)	CFAP70 (H543L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513988	NM_001367801.1(CFAP70):c.1801A>G (p.Ile601Val)	CFAP70 (I409V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 694584	NM_001367801.1(CFAP70):c.1723-1G>T	CFAP70	Single nucleotide variant (splice acceptor variant)	Spermatogenic failure 41	GPathogenic
Select item 2409554	NM_001367801.1(CFAP70):c.1557G>C (p.Lys519Asn)	CFAP70 (K327N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385412	NM_001367801.1(CFAP70):c.1508G>A (p.Arg503Gln)	CFAP70 (R503Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382724	NM_001367801.1(CFAP70):c.1495C>T (p.Pro499Ser)	CFAP70 (P307S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143640	NM_001367801.1(CFAP70):c.1431G>C (p.Leu477Phe)	CFAP70 (L285F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300616	NM_001367801.1(CFAP70):c.1422C>G (p.Asp474Glu)	CFAP70 (D282E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266516	NM_001367801.1(CFAP70):c.1308A>G (p.Ile436Met)	CFAP70 (I244M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292596	NM_001367801.1(CFAP70):c.1286G>A (p.Gly429Glu)	CFAP70 (G429E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367796	NM_001367801.1(CFAP70):c.1114C>T (p.His372Tyr)	CFAP70 (H302Y +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GLikely benign
Select item 3266520	NM_001367801.1(CFAP70):c.1073G>A (p.Arg358Gln)	CFAP70 (R166Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510054	NM_001367801.1(CFAP70):c.913C>T (p.Arg305Trp)	CFAP70 (R305W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327387	NM_001367801.1(CFAP70):c.823A>C (p.Ile275Leu)	CFAP70 (I205L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143650	NM_001367801.1(CFAP70):c.751G>T (p.Gly251Cys)	CFAP70 (G181C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242778	NM_001367801.1(CFAP70):c.694A>G (p.Ile232Val)	CFAP70 (I162V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623225	NM_001367801.1(CFAP70):c.677G>A (p.Arg226Gln)	CFAP70 (R156Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339594	NM_001367801.1(CFAP70):c.566G>A (p.Gly189Glu)	CFAP70 (G189E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3143648	NM_001367801.1(CFAP70):c.556A>G (p.Thr186Ala)	CFAP70 (T186A)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2312271	NM_001367801.1(CFAP70):c.338C>T (p.Pro113Leu)	CFAP70 (P113L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2204114	NM_001367801.1(CFAP70):c.232G>A (p.Ala78Thr)	CFAP70 (A78T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2386448	NM_001367801.1(CFAP70):c.202C>T (p.Pro68Ser)	CFAP70 (P68S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2249891	NM_001367801.1(CFAP70):c.194A>G (p.Glu65Gly)	CFAP70 (E65G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3266519	NM_001367801.1(CFAP70):c.124C>G (p.Leu42Val)	CFAP70 (L42V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2337549	NM_001367801.1(CFAP70):c.19G>C (p.Ala7Pro)	CFAP70 (A7P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063148	GRCh37/hg19 10q22.1-22.2(chr10:74472028-75019111)x3	CFAP70, DNAJC9 +8 more	Copy number gain	not specified	GUncertain significance
Select item 2684602	GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3	RRP12, RTKN2 +332 more	Copy number gain	not provided	GPathogenic
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 1527593	GRCh37/hg19 10q22.2(chr10:75089777-75359997)	ANXA7, CFAP70 +3 more	Copy number loss	not specified	GUncertain significance
Select item 1527589	GRCh37/hg19 10q21.3-22.3(chr10:68735254-78885714)	ADAMTS14, ADK +91 more	Copy number loss	not specified	GPathogenic
Select item 563800	GRCh37/hg19 10q21.3-23.32(chr10:69040366-93194993)x3	ACTA2, ADAMTS14 +168 more	Copy number gain	not provided	GPathogenic
Select item 523165	GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1	COX15, CPEB3 +569 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	INA, INPP5A +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ABCC2 +722 more	Copy number gain	See cases	GPathogenic

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Items: 61