PAFAH1B3[gene] - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 57043	GRCh38/hg38 19q13.12-13.2(chr19:37319377-42738688)x3	ACP7, ACTMAP +514 more	Copy number gain	See cases	GPathogenic
Select item 545227	Single allele	LOC130064626, LOC130064627 +215 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 60102	GRCh38/hg38 19q13.2-13.31(chr19:41930894-43141456)x1	ATP1A3, CEACAM1 +95 more	Copy number loss	See cases	GPathogenic
Select item 1064660	NC_000019.10:g.42032860_42297536del	CIC, DEDD2 +43 more	Deletion	Syndromic craniosynostosis	GPathogenic
Select item 2664935	NM_001386298.1(CIC):c.6055C>T (p.Gln2019Ter)	CIC, PAFAH1B3 (Q1110* +1 more)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 45	GLikely pathogenic
Select item 2499468	NM_001386298.1(CIC):c.6584G>A (p.Arg2195His)	CIC, PAFAH1B3 (R1286H +2 more)	Single nucleotide variant (missense variant)	Dias-Logan syndrome +1 more	GUncertain significance
Select item 2304053	NM_002573.4(PAFAH1B3):c.619G>C (p.Ala207Pro)	PAFAH1B3 (A207P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208004	NM_002573.4(PAFAH1B3):c.617G>A (p.Arg206Gln)	PAFAH1B3 (R206Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496267	NM_002573.4(PAFAH1B3):c.616C>T (p.Arg206Trp)	PAFAH1B3 (R206W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 996640	NM_002573.4(PAFAH1B3):c.571T>C (p.Tyr191His)	PAFAH1B3 (Y191H)	Single nucleotide variant (missense variant)	Autism spectrum disorder	Gassociation
Select item 2380222	NM_002573.4(PAFAH1B3):c.523G>A (p.Asp175Asn)	PAFAH1B3 (D175N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539639	NM_002573.4(PAFAH1B3):c.469G>A (p.Glu157Lys)	PAFAH1B3 (E157K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611370	NM_002573.4(PAFAH1B3):c.448G>A (p.Glu150Lys)	PAFAH1B3 (E150K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259694	NM_002573.4(PAFAH1B3):c.389A>G (p.Gln130Arg)	PAFAH1B3 (Q130R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208003	NM_002573.4(PAFAH1B3):c.373A>T (p.Asn125Tyr)	PAFAH1B3 (N125Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208002	NM_002573.4(PAFAH1B3):c.335A>G (p.Gln112Arg)	PAFAH1B3 (Q112R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 724432	NM_002573.4(PAFAH1B3):c.285+6C>T	PAFAH1B3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2393397	NM_002573.4(PAFAH1B3):c.277C>T (p.Arg93Trp)	PAFAH1B3 (R93W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208000	NM_002573.4(PAFAH1B3):c.242T>C (p.Leu81Pro)	PAFAH1B3 (L81P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235396	NM_002573.4(PAFAH1B3):c.232C>G (p.Gln78Glu)	PAFAH1B3 (Q78E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213729	NM_002573.4(PAFAH1B3):c.175C>T (p.Arg59Cys)	PAFAH1B3 (R59C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289938	NM_002573.4(PAFAH1B3):c.166G>A (p.Glu56Lys)	PAFAH1B3 (E56K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366305	NM_002573.4(PAFAH1B3):c.55G>A (p.Gly19Ser)	PAFAH1B3, PRR19 (G19S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3208001	NM_002573.4(PAFAH1B3):c.30G>C (p.Lys10Asn)	PAFAH1B3, PRR19 (K10N)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2423350	NC_000019.9:g.(?_39904727)_(42931301_?)dup	ACTMAP, AKT2 +84 more	Duplication	Diamond-Blackfan anemia +3 more	GUncertain significance
Select item 689144	GRCh37/hg19 19q13.2(chr19:42803967-42812285)x1	PAFAH1B3, PRR19	Copy number loss	not provided	GUncertain significance
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ACP7, ACTMAP +434 more	Copy number gain	not provided	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	BICRA, BLOC1S3 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic

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Items: 30