ClinVar for Gene (Select 11100) - ClinVar

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Links from Gene

Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3284589	NM_007040.6(HNRNPUL1):c.50G>C (p.Arg17Pro)	HNRNPUL1, LOC130064499 (R17P)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3284588	NM_007040.6(HNRNPUL1):c.766C>T (p.Arg256Cys)	HNRNPUL1 (R167C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284587	NM_007040.6(HNRNPUL1):c.2537C>G (p.Ser846Cys)	HNRNPUL1 (S757C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284586	NM_007040.6(HNRNPUL1):c.2371G>A (p.Gly791Ser)	HNRNPUL1 (G791S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106450	NM_007040.6(HNRNPUL1):c.464C>T (p.Pro155Leu)	HNRNPUL1 (P55L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106449	NM_007040.6(HNRNPUL1):c.373G>A (p.Glu125Lys)	HNRNPUL1 (E36K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106448	NM_007040.6(HNRNPUL1):c.2090C>T (p.Pro697Leu)	HNRNPUL1 (P697L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106447	NM_007040.6(HNRNPUL1):c.1776G>T (p.Arg592Ser)	HNRNPUL1, LOC130064502 (R592S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106446	NM_007040.6(HNRNPUL1):c.1426C>T (p.Arg476Cys)	HNRNPUL1 (R387C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106445	NM_007040.6(HNRNPUL1):c.1403G>A (p.Arg468His)	HNRNPUL1 (R368H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2692494	NM_007040.6(HNRNPUL1):c.1228C>T (p.Arg410Trp)	HNRNPUL1 (R310W +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2622333	NM_007040.6(HNRNPUL1):c.1916G>A (p.Arg639His)	HNRNPUL1, LOC130064502 (R550H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620647	NM_007040.6(HNRNPUL1):c.2215A>G (p.Ser739Gly)	HNRNPUL1 (S639G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616557	NM_007040.6(HNRNPUL1):c.523T>C (p.Tyr175His)	HNRNPUL1 (Y86H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592461	NM_007040.6(HNRNPUL1):c.535C>T (p.Arg179Trp)	HNRNPUL1 (R179W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559085	NM_007040.6(HNRNPUL1):c.129C>G (p.Asp43Glu)	HNRNPUL1, LOC130064499 (D43E)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2556829	NM_007040.6(HNRNPUL1):c.1921G>A (p.Gly641Ser)	HNRNPUL1, LOC130064502 (G541S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554873	NM_007040.6(HNRNPUL1):c.1751G>A (p.Arg584Gln)	HNRNPUL1, LOC130064502 (R484Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543840	NM_007040.6(HNRNPUL1):c.98T>C (p.Leu33Pro)	HNRNPUL1, LOC130064499 (L33P)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2528259	NM_007040.6(HNRNPUL1):c.1915C>T (p.Arg639Cys)	HNRNPUL1, LOC130064502 (R539C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526119	NM_007040.6(HNRNPUL1):c.64A>C (p.Thr22Pro)	HNRNPUL1, LOC130064499 (T22P)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2468922	NM_007040.6(HNRNPUL1):c.1934G>A (p.Arg645Gln)	HNRNPUL1, LOC130064502 (R545Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467689	NM_007040.6(HNRNPUL1):c.2237C>G (p.Thr746Ser)	HNRNPUL1 (T657S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2423350	NC_000019.9:g.(?_39904727)_(42931301_?)dup	ACTMAP, AKT2 +84 more	Duplication	TWIST1-related craniosynostosis +3 more	GUncertain significance
Select item 2362035	NM_007040.6(HNRNPUL1):c.148G>A (p.Ala50Thr)	HNRNPUL1, LOC130064499 (A50T)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2334714	NM_007040.6(HNRNPUL1):c.2527G>C (p.Gly843Arg)	HNRNPUL1 (G743R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289922	NM_007040.6(HNRNPUL1):c.404A>C (p.Gln135Pro)	HNRNPUL1 (Q135P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257197	NM_007040.6(HNRNPUL1):c.761G>C (p.Arg254Thr)	HNRNPUL1 (R154T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254074	NM_007040.6(HNRNPUL1):c.1739T>C (p.Ile580Thr)	HNRNPUL1, LOC130064502 (I491T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219928	NM_007040.6(HNRNPUL1):c.2105C>T (p.Pro702Leu)	HNRNPUL1 (P613L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209278	NM_007040.6(HNRNPUL1):c.838C>A (p.His280Asn)	HNRNPUL1 (H280N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1701791	NM_007040.6(HNRNPUL1):c.1522A>G (p.Asn508Asp)	HNRNPUL1, LOC126862911 (N408D +2 more)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 816082	GRCh37/hg19 19q13.2(chr19:41304025-41928997)x3	B9D2, CYP2S1 +13 more	Copy number gain	not provided	GUncertain significance
Select item 781487	NM_007040.6(HNRNPUL1):c.573-3C>T	HNRNPUL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ZNF607, ZNF780A +432 more	Copy number gain	not provided	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
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

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Links from Gene

Items: 39