ClinVar for Gene (Select 10949) - ClinVar

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Links from Gene

Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2544604	NM_006805.4(HNRNPA0):c.349C>T (p.His117Tyr)	HNRNPA0 (H117Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536744	NM_006805.4(HNRNPA0):c.650A>T (p.Tyr217Phe)	HNRNPA0 (Y217F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476622	NM_006805.4(HNRNPA0):c.613G>T (p.Asp205Tyr)	HNRNPA0 (D205Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2427648	NC_000005.9:g.(?_136957787)_(138861289_?)del	BRD8, CDC23 +29 more	Deletion	STING-associated vasculopathy with onset in infancy	GUncertain significance
Select item 2425421	NC_000005.9:g.(?_136957787)_(140078137_?)dup	ANKHD1, ANKHD1-EIF4EBP3 +53 more	Duplication	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GUncertain significance
Select item 2376258	NM_006805.4(HNRNPA0):c.382G>C (p.Glu128Gln)	HNRNPA0 (E128Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367476	NM_006805.4(HNRNPA0):c.580G>T (p.Gly194Cys)	HNRNPA0 (G194C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348126	NM_006805.4(HNRNPA0):c.659A>T (p.Tyr220Phe)	HNRNPA0 (Y220F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246640	NM_006805.4(HNRNPA0):c.656G>A (p.Ser219Asn)	HNRNPA0 (S219N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212122	NM_006805.4(HNRNPA0):c.607G>A (p.Gly203Ser)	HNRNPA0 (G203S)	Single nucleotide variant (missense variant)	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 1047869	GRCh37/hg19 5q31.2(chr5:136409875-137739167)	BRD8, CDC23 +13 more	Copy number loss	Neurodevelopmental delay +1 more	GPathogenic
Select item 1020265	NC_000005.9:g.(?_136633338)_(140998481_?)dup	PAIP2, PCDHA1 +116 more	Duplication	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GUncertain significance
Select item 709391	NM_006805.4(HNRNPA0):c.516A>G (p.Lys172=)	HNRNPA0	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 457359	NC_000005.9:g.(?_86400000)_(154000000_?)del	ARB2A, ARHGAP26 +385 more	Deletion	Hereditary cancer-predisposing syndrome +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
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 144268	GRCh38/hg38 5q31.1-31.3(chr5:135297294-140106003)x3	BRD8, CDC23 +236 more	Copy number gain	See cases	GPathogenic
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 58361	GRCh38/hg38 5q31.1-31.2(chr5:133401565-138437038)x1	BRD8, C5orf15 +230 more	Copy number loss	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

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Links from Gene

Items: 26