MACROH2A1[gene] - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 149858	GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3	LOC129994992, LOC129994993 +1157 more	Copy number gain	See cases	GPathogenic
Select item 57483	GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3	ABLIM3, ACSL6 +1218 more	Copy number gain	See cases	GPathogenic
Select item 146119	GRCh38/hg38 5q31.1(chr5:131626503-135815054)x1	ACSL6, ACSL6-AS1 +263 more	Copy number loss	See cases	GPathogenic
Select item 58360	GRCh38/hg38 5q31.1(chr5:132816203-135383158)x1	AFF4, AFF4-DT +147 more	Copy number loss	See cases	GPathogenic
Select item 58361	GRCh38/hg38 5q31.1-31.2(chr5:133401565-138437038)x1	BRD8, C5orf15 +230 more	Copy number loss	See cases	GPathogenic
Select item 144268	GRCh38/hg38 5q31.1-31.3(chr5:135297294-140106003)x3	BRD8, CDC23 +236 more	Copy number gain	See cases	GPathogenic
Select item 3121930	NM_138610.3(MACROH2A1):c.1067G>A (p.Ser356Asn)	MACROH2A1, PITX1-AS1 (S353N +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3121929	NM_138610.3(MACROH2A1):c.1028C>A (p.Ser343Tyr)	MACROH2A1, PITX1-AS1 (S343Y +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3121928	NM_138610.3(MACROH2A1):c.1024A>G (p.Met342Val)	MACROH2A1, PITX1-AS1 (M170V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2513708	NM_138610.3(MACROH2A1):c.1015G>A (p.Val339Met)	MACROH2A1, PITX1-AS1 (V336M +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2508246	NM_138610.3(MACROH2A1):c.995A>G (p.Lys332Arg)	MACROH2A1, PITX1-AS1 (K329R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 716117	NM_138610.3(MACROH2A1):c.948C>T (p.Ser316=)	LOC126807518, MACROH2A1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 2491874	NM_138610.3(MACROH2A1):c.866T>C (p.Leu289Pro)	LOC126807518, MACROH2A1 +1 more (L285P +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3121934	NM_138610.3(MACROH2A1):c.865C>T (p.Leu289Phe)	LOC126807518, MACROH2A1 +1 more (S107N +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3121933	NM_138610.3(MACROH2A1):c.847G>A (p.Ala283Thr)	LOC126807518, MACROH2A1 +1 more (A111T +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 799411	NM_138610.3(MACROH2A1):c.534A>G (p.Thr178=)	MACROH2A1	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 3121932	NM_138610.3(MACROH2A1):c.467G>A (p.Arg156Gln)	MACROH2A1 (R156Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2471494	NM_138610.3(MACROH2A1):c.466C>T (p.Arg156Trp)	MACROH2A1 (R156W)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 730304	NM_138610.3(MACROH2A1):c.393C>T (p.Pro131=)	MACROH2A1	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GBenign
Select item 2515413	NM_138610.3(MACROH2A1):c.389C>T (p.Pro130Leu)	MACROH2A1 (P130L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 785137	NM_138610.3(MACROH2A1):c.279+8C>T	MACROH2A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3121931	NM_138610.3(MACROH2A1):c.127G>T (p.Val43Leu)	MACROH2A1 (V43L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1809383	GRCh37/hg19 5q31.1(chr5:134524754-135283222)x3	CXCL14, DCANP1 +6 more	Copy number gain	not provided	GUncertain significance
Select item 1527199	GRCh37/hg19 5q31.1(chr5:132829317-134983855)	C5orf15, C5orf24 +22 more	Copy number loss	not specified	GUncertain significance
Select item 1527198	GRCh37/hg19 5q31.1-31.2(chr5:132031902-137623639)	AFF4, BRD8 +53 more	Copy number loss	not specified	GPathogenic
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 624508	GRCh37/hg19 5q23.2-31.2(chr5:126377719-136270989)x1	ACSL6, ADAMTS19 +68 more	Copy number loss	not provided	GLikely pathogenic
Select item 457359	NC_000005.9:g.(?_86400000)_(154000000_?)del	APBB3, CDX1 +385 more	Deletion	Familial adenomatous polyposis 1 +1 more	GPathogenic
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	HRH2, HSD17B4 +520 more	Copy number gain	See cases	GPathogenic

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Items: 34