ClinVar for Gene (Select 54623) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3207997	NM_019088.4(PAF1):c.869A>G (p.Lys290Arg)	PAF1, SAMD4B (K290R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3207996	NM_019088.4(PAF1):c.278G>T (p.Arg93Leu)	PAF1, SAMD4B (R93L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207994	NM_019088.4(PAF1):c.1402G>C (p.Asp468His)	PAF1, SAMD4B (M396I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3207993	NM_019088.4(PAF1):c.1168G>A (p.Glu390Lys)	PAF1, SAMD4B (E390K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3064783	NM_019088.4(PAF1):c.1445C>T (p.Ser482Leu)	PAF1, SAMD4B (Q411* +1 more)	Single nucleotide variant (nonsense +2 more)	Peroxisome biogenesis disorder 1A (Zellweger)	GUncertain significance
Select item 3062386	GRCh37/hg19 19q11-13.2(chr19:28271146-41508851)x3	SLC7A9, SNRPA +215 more	Copy number gain	not specified	GPathogenic
Select item 2649831	NM_019088.4(PAF1):c.322T>C (p.Leu108=)	PAF1, SAMD4B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2618869	NM_019088.4(PAF1):c.40G>A (p.Gly14Ser)	PAF1 (G14S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2618151	NM_019088.4(PAF1):c.1465G>A (p.Gly489Ser)	PAF1, SAMD4B (G489S)	Single nucleotide variant (synonymous variant +2 more)	not specified	GUncertain significance
Select item 2612565	NM_019088.4(PAF1):c.13A>G (p.Ile5Val)	PAF1 (I5V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2605101	NM_019088.4(PAF1):c.280A>C (p.Ile94Leu)	PAF1, SAMD4B (I94L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522905	NM_019088.4(PAF1):c.845C>T (p.Ala282Val)	PAF1, SAMD4B (A282V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2481318	NM_019088.4(PAF1):c.1423C>G (p.Gln475Glu)	PAF1, SAMD4B (Q475E)	Single nucleotide variant (synonymous variant +2 more)	not specified	GUncertain significance
Select item 2476567	NM_019088.4(PAF1):c.1432A>G (p.Ser478Gly)	PAF1, SAMD4B (S478G)	Single nucleotide variant (synonymous variant +2 more)	not specified	GUncertain significance
Select item 2473025	NM_019088.4(PAF1):c.290A>G (p.Asn97Ser)	PAF1, SAMD4B (N87S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470952	NM_019088.4(PAF1):c.1499C>G (p.Ala500Gly)	PAF1, SAMD4B (A500G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2424211	NC_000019.9:g.(?_39205089)_(40913839_?)dup	ACP7, ACTN4 +53 more	Duplication	not provided	GUncertain significance
Select item 2407901	NM_019088.4(PAF1):c.1170A>C (p.Glu390Asp)	PAF1, SAMD4B (E380D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2360351	NM_019088.4(PAF1):c.1241C>T (p.Ser414Leu)	PAF1, SAMD4B (S414L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2273726	NM_019088.4(PAF1):c.1316G>A (p.Ser439Asn)	PAF1, SAMD4B (S439N)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2237472	NM_019088.4(PAF1):c.1540G>A (p.Asp514Asn)	PAF1, SAMD4B (D514N)	Single nucleotide variant (synonymous variant +2 more)	not specified	GUncertain significance
Select item 1330177	GRCh37/hg19 19p13.11-q13.2(chr19:19546923-41313229)x3	ACP7, ACTMAP +255 more	Copy number gain	Specific learning disability	GPathogenic
Select item 1288018	NM_019088.4(PAF1):c.372C>T (p.His124=)	PAF1, SAMD4B	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1272323	NM_019088.4(PAF1):c.48-87_48-86insCTT	PAF1, SAMD4B	Insertion (intron variant)	not provided	GBenign
Select item 1253651	NM_019088.4(PAF1):c.568-8T>C	PAF1, SAMD4B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247004	NM_019088.4(PAF1):c.986+22G>C	PAF1, SAMD4B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245904	NM_019088.4(PAF1):c.987-166A>G	PAF1, SAMD4B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244822	NM_019088.4(PAF1):c.987-297A>G	PAF1, SAMD4B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1240530	NM_019088.4(PAF1):c.858-37G>A	PAF1, SAMD4B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ACP7, ACTMAP +434 more	Copy number gain	not provided	GPathogenic
Select item 591899	NM_019088.4(PAF1):c.28C>T (p.Gln10Ter)	PAF1 (Q10*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
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
Select item 253452	GRCh37/hg19 19q13.12-13.2(chr19:37582250-41630908)x3	DPF1, DYRK1B +105 more	Copy number gain	See cases	GPathogenic
Select item 221542	GRCh37/hg19 19q13.2(chr19:39879621-39944079)x3	MED29, PAF1 +4 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 37