ClinVar for Gene (Select 55301) - ClinVar

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Links from Gene

Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3204185	NM_001039702.3(OLAH):c.782C>T (p.Ser261Leu)	ACBD7-DCLRE1CP1, OLAH (S314L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204184	NM_001039702.3(OLAH):c.753C>G (p.Asn251Lys)	ACBD7-DCLRE1CP1, OLAH (N304K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204183	NM_001039702.3(OLAH):c.51C>A (p.Asn17Lys)	ACBD7-DCLRE1CP1, OLAH (N17K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204182	NM_001039702.3(OLAH):c.236T>C (p.Val79Ala)	ACBD7-DCLRE1CP1, OLAH (V132A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	PIK3AP1, SVIL +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	RRP12, USP54 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2559448	NM_001039702.3(OLAH):c.638T>C (p.Ile213Thr)	ACBD7-DCLRE1CP1, OLAH (I213T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556634	NM_001039702.3(OLAH):c.614C>T (p.Thr205Ile)	ACBD7-DCLRE1CP1, OLAH (T258I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533195	NM_001039702.3(OLAH):c.209C>T (p.Pro70Leu)	ACBD7-DCLRE1CP1, OLAH (P123L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395286	NM_001039702.3(OLAH):c.314A>G (p.Tyr105Cys)	ACBD7-DCLRE1CP1, OLAH (Y105C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365459	NM_001039702.3(OLAH):c.185G>C (p.Gly62Ala)	ACBD7-DCLRE1CP1, OLAH (G115A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360355	NM_001039702.3(OLAH):c.289T>C (p.Phe97Leu)	ACBD7-DCLRE1CP1, OLAH (F150L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343107	NM_001039702.3(OLAH):c.419G>A (p.Arg140His)	ACBD7-DCLRE1CP1, OLAH (R193H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342707	NM_001039702.3(OLAH):c.757A>C (p.Ile253Leu)	ACBD7-DCLRE1CP1, OLAH (I306L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323040	NM_001039702.3(OLAH):c.516T>A (p.Phe172Leu)	ACBD7-DCLRE1CP1, OLAH (F172L +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2302159	NM_001039702.3(OLAH):c.280C>G (p.Pro94Ala)	ACBD7-DCLRE1CP1, OLAH (P147A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287191	NM_001039702.3(OLAH):c.568T>C (p.Cys190Arg)	ACBD7-DCLRE1CP1, OLAH (C190R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280956	NM_001039702.3(OLAH):c.557T>C (p.Ile186Thr)	ACBD7-DCLRE1CP1, OLAH (I186T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266748	NM_001039702.3(OLAH):c.13G>A (p.Asp5Asn)	ACBD7-DCLRE1CP1, OLAH (D5N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251281	NM_001039702.3(OLAH):c.682G>A (p.Ala228Thr)	ACBD7-DCLRE1CP1, OLAH (A228T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2239946	NM_001039702.3(OLAH):c.128C>G (p.Ala43Gly)	ACBD7-DCLRE1CP1, OLAH (A43G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1527577	GRCh37/hg19 10p15.1-11.21(chr10:6273934-34732521)	ABI1, ACBD5 +111 more	Copy number gain	not specified	GPathogenic
Select item 1339781	GRCh37/hg19 10p15.3-q11.22(chr10:135655-47688677)x4	ACBD7, ABI1 +180 more	Copy number gain	Mosaic supernumerary isodicentric chromosome 10	Gnot provided
Select item 1047870	GRCh37/hg19 10p14-13(chr10:9137489-17227168)	ACBD7, BEND7 +36 more	Copy number loss	Neurodevelopmental delay	GPathogenic
Select item 687391	GRCh37/hg19 10p15.3-13(chr10:100026-15273144)x3	ACBD7, ADARB2 +68 more	Copy number gain	not provided	GPathogenic
Select item 687363	GRCh37/hg19 10p15.3-13(chr10:100026-15273144)x3	WDR37, ZMYND11 +68 more	Copy number gain	not provided	GPathogenic
Select item 599307	Single allele	ITIH2, ITIH5 +72 more	Deletion	Hypoparathyroidism, deafness, renal disease syndrome	GPathogenic
Select item 443260	GRCh37/hg19 10p15.3-q11.23(chr10:100026-50961640)x3	ABI1, ACBD5 +205 more	Copy number gain	See cases	GPathogenic
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	A1CF, ABCC2 +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	BCCIP, BEND7 +722 more	Copy number gain	See cases	GPathogenic
Select item 155636	GRCh38/hg38 10p15.3-12.31(chr10:54086-19336980)x1	PROSER2-AS1, PRPF18 +680 more	Copy number loss	See cases	GPathogenic
Select item 152998	GRCh38/hg38 10p15.1-q11.22(chr10:4604734-48074662)x3	AGAP4, AGAP9 +1221 more	Copy number gain	See cases	GBenign
Select item 149407	GRCh38/hg38 10p15.3-12.1(chr10:90205-26339978)x3	ACBD7, ACBD7-DCLRE1CP1 +837 more	Copy number gain	See cases	GPathogenic
Select item 148232	GRCh38/hg38 10p14-12.31(chr10:7428770-21587752)x1	ACBD7, ACBD7-DCLRE1CP1 +388 more	Copy number loss	See cases	GPathogenic
Select item 59663	GRCh38/hg38 10p13(chr10:14844417-15150430)x3	RPP38-DT, SUV39H2 +23 more	Copy number gain	See cases	GPathogenic
Select item 59657	GRCh38/hg38 10p15.3-12.31(chr10:69261-19184047)x3	LOC126860819, LOC126860820 +680 more	Copy number gain	See cases	GPathogenic
Select item 58717	GRCh38/hg38 10p15.1-13(chr10:4802753-16823491)x1	LOC130003217, LOC130003218 +482 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 38