ClinVar for Gene (Select 3191) - ClinVar

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Links from Gene

Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3106420	NM_001533.3(HNRNPL):c.964G>A (p.Gly322Ser)	HNRNPL (G189S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106419	NM_001533.3(HNRNPL):c.91G>A (p.Ala31Thr)	HNRNPL (A31T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3106418	NM_001533.3(HNRNPL):c.68A>G (p.Asp23Gly)	HNRNPL (D23G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3106417	NM_001533.3(HNRNPL):c.244G>T (p.Ala82Ser)	HNRNPL (A82S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3106416	NM_001533.3(HNRNPL):c.1564G>A (p.Asp522Asn)	HNRNPL (D389N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106415	NM_001533.3(HNRNPL):c.14T>A (p.Leu5Gln)	HNRNPL (L5Q)	Single nucleotide variant (missense variant +1 more)	not specified	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 2649822	NM_001533.3(HNRNPL):c.1416C>T (p.Cys472=)	HNRNPL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2613634	NM_001533.3(HNRNPL):c.539C>G (p.Ser180Cys)	HNRNPL (S180C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603672	NM_001533.3(HNRNPL):c.1682T>C (p.Phe561Ser)	HNRNPL (F561S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601140	NM_001533.3(HNRNPL):c.172C>T (p.Pro58Ser)	HNRNPL (P58S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2572254	NM_001533.3(HNRNPL):c.88_106del (p.Gly30fs)	HNRNPL (G30fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2554975	NM_001533.3(HNRNPL):c.1017C>G (p.His339Gln)	HNRNPL (H206Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546077	NM_001533.3(HNRNPL):c.62A>G (p.Gln21Arg)	HNRNPL (Q21R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2540054	NM_001533.3(HNRNPL):c.19C>T (p.Pro7Ser)	HNRNPL (P7S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2513050	NM_001533.3(HNRNPL):c.866A>G (p.Asn289Ser)	HNRNPL (N289S +1 more)	Single nucleotide variant (missense variant)	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 2423269	NC_000019.9:g.(?_38375572)_(39738787_?)dup	RINL, RYR1 +34 more	Duplication	RYR1-Related Disorders	GUncertain significance
Select item 2405112	NM_001533.3(HNRNPL):c.1699A>C (p.Met567Leu)	HNRNPL (M434L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391966	NM_001533.3(HNRNPL):c.53A>G (p.Gln18Arg)	HNRNPL (Q18R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2318108	NM_001533.3(HNRNPL):c.64C>A (p.Pro22Thr)	HNRNPL (P22T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2236727	NM_001533.3(HNRNPL):c.623C>T (p.Thr208Met)	HNRNPL (T75M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226368	NM_001533.3(HNRNPL):c.1463C>A (p.Pro488Gln)	HNRNPL (P355Q +2 more)	Single nucleotide variant (missense variant)	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 1300568	NM_001533.3(HNRNPL):c.1355+17G>A	HNRNPL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 790886	NM_001533.3(HNRNPL):c.82C>A (p.Arg28=)	HNRNPL	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 787605	NM_001533.3(HNRNPL):c.43C>A (p.Arg15=)	HNRNPL	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 725094	NM_001533.3(HNRNPL):c.549G>A (p.Gly183=)	HNRNPL	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 711727	NM_001533.3(HNRNPL):c.710+10G>C	HNRNPL	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 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	LILRA4, LILRA5 +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 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	LOC130064390, LOC130064391 +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

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Links from Gene

Items: 35