ClinVar for Gene (Select 55506) - ClinVar

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Links from Gene

Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3121945	NM_018649.3(MACROH2A2):c.977C>T (p.Ala326Val)	MACROH2A2 (A326V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121944	NM_018649.3(MACROH2A2):c.784G>A (p.Val262Ile)	MACROH2A2 (V262I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121943	NM_018649.3(MACROH2A2):c.772G>A (p.Ala258Thr)	MACROH2A2 (A258T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121941	NM_018649.3(MACROH2A2):c.433G>C (p.Gly145Arg)	MACROH2A2 (G145R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121940	NM_018649.3(MACROH2A2):c.433G>A (p.Gly145Arg)	MACROH2A2 (G145R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121939	NM_018649.3(MACROH2A2):c.432G>C (p.Lys144Asn)	MACROH2A2 (K144N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121938	NM_018649.3(MACROH2A2):c.419C>T (p.Thr140Met)	MACROH2A2 (T140M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121937	NM_018649.3(MACROH2A2):c.415G>T (p.Ala139Ser)	MACROH2A2 (A139S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121936	NM_018649.3(MACROH2A2):c.118C>T (p.Arg40Trp)	MACROH2A2 (R40W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121935	NM_018649.3(MACROH2A2):c.10C>T (p.Arg4Trp)	MACROH2A2 (R4W)	Single nucleotide variant (missense variant)	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 2620072	NM_018649.3(MACROH2A2):c.434G>T (p.Gly145Val)	MACROH2A2 (G145V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618852	NM_018649.3(MACROH2A2):c.389C>A (p.Pro130Gln)	MACROH2A2 (P130Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	MTG1, NPS +679 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	A1CF, ABCC2 +670 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2570455	NM_018649.3(MACROH2A2):c.595T>G (p.Leu199Val)	MACROH2A2 (L199V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2565216	NM_018649.3(MACROH2A2):c.434G>C (p.Gly145Ala)	MACROH2A2 (G145A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552483	NM_018649.3(MACROH2A2):c.324A>C (p.Arg108Ser)	MACROH2A2 (R108S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525260	NM_018649.3(MACROH2A2):c.467C>T (p.Thr156Met)	MACROH2A2 (T156M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472624	NM_018649.3(MACROH2A2):c.446C>A (p.Ser149Tyr)	MACROH2A2 (S149Y)	Single nucleotide variant (missense variant)	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 1340135	GRCh37/hg19 10q22.1(chr10:71754361-72399690)x3	AIFM2, EIF4EBP2 +9 more	Copy number gain	not provided	GUncertain significance
Select item 780867	NM_018649.3(MACROH2A2):c.780C>T (p.Ala260=)	MACROH2A2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 747362	NM_018649.3(MACROH2A2):c.1023G>A (p.Ser341=)	MACROH2A2	Single nucleotide variant (synonymous variant)	not provided	GBenign
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)	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 148945	GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3	LOC129390180, LOC129390181 +1008 more	Copy number gain	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 145481	GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3	A1CF, ADAMTS14 +902 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 57436	GRCh38/hg38 10q22.1(chr10:70036168-70522664)x3	AIFM2, EIF4EBP2 +37 more	Copy number gain	See cases	GUncertain significance

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Links from Gene

Items: 35