ClinVar for Gene (Select 7456) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 319

<< First< Prev

Page of 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3333105	NM_001375834.1(WIPF1):c.24A>C (p.Ala8=)	WIPF1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3333104	NM_001375834.1(WIPF1):c.661C>A (p.Pro221Thr)	WIPF1 (P95T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3247396	NC_000002.11:g.(?_175427275)_(175450301_?)dup	WIPF1	Duplication	Wiskott-Aldrich syndrome 2	GUncertain significance
Select item 3234259	NM_001375834.1(WIPF1):c.39G>C (p.Pro13=)	WIPF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3190551	NM_001375834.1(WIPF1):c.950G>C (p.Gly317Ala)	WIPF1 (G317A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3190549	NM_001375834.1(WIPF1):c.637C>T (p.Pro213Ser)	WIPF1 (P213S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3190547	NM_001375834.1(WIPF1):c.1070T>C (p.Leu357Pro)	WIPF1 (L231P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3017662	NM_001375834.1(WIPF1):c.1264A>C (p.Arg422=)	WIPF1	Single nucleotide variant (synonymous variant)	Wiskott-Aldrich syndrome 2	GLikely benign
Select item 3017216	NM_001375834.1(WIPF1):c.66G>A (p.Lys22=)	WIPF1	Single nucleotide variant (synonymous variant)	Wiskott-Aldrich syndrome 2	GLikely benign
Select item 3014038	NM_001375834.1(WIPF1):c.762T>A (p.Pro254=)	WIPF1	Single nucleotide variant (synonymous variant)	Wiskott-Aldrich syndrome 2	GLikely benign
Select item 2999762	NM_001375834.1(WIPF1):c.182-20G>A	WIPF1	Single nucleotide variant (intron variant)	Wiskott-Aldrich syndrome 2	GLikely benign
Select item 2973354	NM_001375834.1(WIPF1):c.1335A>C (p.Pro445=)	WIPF1	Single nucleotide variant (synonymous variant)	Wiskott-Aldrich syndrome 2	GLikely benign
Select item 2965143	NM_001375834.1(WIPF1):c.1457-14G>A	WIPF1	Single nucleotide variant (intron variant)	Wiskott-Aldrich syndrome 2	GLikely benign
Select item 2964537	NM_001375834.1(WIPF1):c.279A>C (p.Gly93=)	WIPF1	Single nucleotide variant (synonymous variant +1 more)	Wiskott-Aldrich syndrome 2	GLikely benign
Select item 2962959	NM_001375834.1(WIPF1):c.843G>C (p.Ala281=)	WIPF1	Single nucleotide variant (synonymous variant)	Wiskott-Aldrich syndrome 2	GLikely benign
Select item 2959617	NM_001375834.1(WIPF1):c.52-15A>G	WIPF1	Single nucleotide variant (intron variant)	Wiskott-Aldrich syndrome 2	GLikely benign
Select item 2959345	NM_001375834.1(WIPF1):c.271A>C (p.Ser91Arg)	WIPF1 (S91R)	Single nucleotide variant (missense variant +1 more)	Wiskott-Aldrich syndrome 2	GUncertain significance
Select item 2956633	NM_001375834.1(WIPF1):c.621C>G (p.Pro207=)	WIPF1	Single nucleotide variant (synonymous variant)	Wiskott-Aldrich syndrome 2	GLikely benign
Select item 2897980	NM_001375834.1(WIPF1):c.1343-20C>T	WIPF1	Single nucleotide variant (intron variant)	Wiskott-Aldrich syndrome 2	GLikely benign
Select item 2891729	NM_001375834.1(WIPF1):c.234C>T (p.Gly78=)	WIPF1	Single nucleotide variant (synonymous variant +1 more)	Wiskott-Aldrich syndrome 2	GLikely benign
Select item 2885228	NM_001375834.1(WIPF1):c.1017G>A (p.Leu339=)	WIPF1	Single nucleotide variant (synonymous variant)	Wiskott-Aldrich syndrome 2	GLikely benign
Select item 2878551	NM_001375834.1(WIPF1):c.181+7A>T	WIPF1	Single nucleotide variant (intron variant)	Wiskott-Aldrich syndrome 2	GLikely benign
Select item 2875909	NM_001375834.1(WIPF1):c.1131C>T (p.Gly377=)	WIPF1	Single nucleotide variant (synonymous variant)	Wiskott-Aldrich syndrome 2	GLikely benign
Select item 2856858	NM_001375834.1(WIPF1):c.1181C>T (p.Ala394Val)	WIPF1 (A268V +1 more)	Single nucleotide variant (missense variant)	Wiskott-Aldrich syndrome 2	GUncertain significance
Select item 2854482	NM_001375834.1(WIPF1):c.1050G>A (p.Ser350=)	WIPF1	Single nucleotide variant (synonymous variant)	Wiskott-Aldrich syndrome 2	GLikely benign
Select item 2849944	NM_001375834.1(WIPF1):c.1080G>C (p.Pro360=)	WIPF1	Single nucleotide variant (synonymous variant)	Wiskott-Aldrich syndrome 2	GLikely benign
Select item 2845811	NM_001375834.1(WIPF1):c.1131C>A (p.Gly377=)	WIPF1	Single nucleotide variant (synonymous variant)	Wiskott-Aldrich syndrome 2	GLikely benign
Select item 2842636	NM_001375834.1(WIPF1):c.182-8T>C	WIPF1	Single nucleotide variant (intron variant)	Wiskott-Aldrich syndrome 2	GLikely benign
Select item 2821077	NM_001375834.1(WIPF1):c.587C>G (p.Ser196Ter)	WIPF1 (S196* +1 more)	Single nucleotide variant (nonsense)	Wiskott-Aldrich syndrome 2	GPathogenic
Select item 2814587	NM_001375834.1(WIPF1):c.279A>G (p.Gly93=)	WIPF1	Single nucleotide variant (synonymous variant +1 more)	Wiskott-Aldrich syndrome 2	GLikely benign
Select item 2797377	NM_001375834.1(WIPF1):c.978C>T (p.Ser326=)	WIPF1	Single nucleotide variant (synonymous variant)	Wiskott-Aldrich syndrome 2	GLikely benign
Select item 2783978	NM_001375834.1(WIPF1):c.1263T>C (p.Asp421=)	WIPF1	Single nucleotide variant (synonymous variant)	Wiskott-Aldrich syndrome 2	GLikely benign
Select item 2771107	NM_001375834.1(WIPF1):c.810A>G (p.Pro270=)	WIPF1	Single nucleotide variant (synonymous variant)	Wiskott-Aldrich syndrome 2	GLikely benign
Select item 2748782	NM_001375834.1(WIPF1):c.359-19T>C	WIPF1	Single nucleotide variant (intron variant)	Wiskott-Aldrich syndrome 2	GLikely benign
Select item 2739139	NM_001375834.1(WIPF1):c.615A>G (p.Pro205=)	WIPF1	Single nucleotide variant (synonymous variant)	Wiskott-Aldrich syndrome 2	GLikely benign
Select item 2731671	NM_001375834.1(WIPF1):c.936T>A (p.Pro312=)	WIPF1	Single nucleotide variant (synonymous variant)	Wiskott-Aldrich syndrome 2	GLikely benign
Select item 2722570	NM_001375834.1(WIPF1):c.1343-5C>T	WIPF1	Single nucleotide variant (intron variant)	Wiskott-Aldrich syndrome 2	GLikely benign
Select item 2716677	NM_001375834.1(WIPF1):c.1130-10T>C	WIPF1	Single nucleotide variant (intron variant)	Wiskott-Aldrich syndrome 2	GLikely benign
Select item 2714549	NM_001375834.1(WIPF1):c.961C>T (p.Leu321=)	WIPF1	Single nucleotide variant (synonymous variant)	Wiskott-Aldrich syndrome 2	GLikely benign
Select item 2710040	NM_001375834.1(WIPF1):c.510G>A (p.Pro170=)	WIPF1	Single nucleotide variant (synonymous variant +1 more)	Wiskott-Aldrich syndrome 2	GLikely benign
Select item 2709697	NM_001375834.1(WIPF1):c.1236T>C (p.Ser412=)	WIPF1	Single nucleotide variant (synonymous variant)	Wiskott-Aldrich syndrome 2	GLikely benign
Select item 2706034	NM_001375834.1(WIPF1):c.1218A>T (p.Gly406=)	WIPF1	Single nucleotide variant (synonymous variant)	Wiskott-Aldrich syndrome 2	GLikely benign
Select item 2695612	NM_001375834.1(WIPF1):c.1343-14G>A	WIPF1	Single nucleotide variant (intron variant)	Wiskott-Aldrich syndrome 2	GLikely benign
Select item 2688543	NM_001375834.1(WIPF1):c.358+396C>T	WIPF1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2688443	NM_001375834.1(WIPF1):c.358+420A>G	WIPF1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2682757	NM_001375834.1(WIPF1):c.874C>T (p.Pro292Ser)	WIPF1 (P166S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2682756	NM_001375834.1(WIPF1):c.1130-20A>C	WIPF1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2651549	NM_001375834.1(WIPF1):c.484C>T (p.Pro162Ser)	WIPF1 (P162S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2651548	NM_001375834.1(WIPF1):c.492T>C (p.Pro164=)	WIPF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2543728	NM_001375834.1(WIPF1):c.596A>G (p.His199Arg)	WIPF1 (H199R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2480976	NM_001375834.1(WIPF1):c.505A>T (p.Met169Leu)	WIPF1 (M169L)	Single nucleotide variant (intron variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2480276	NM_001375834.1(WIPF1):c.16C>T (p.Pro6Ser)	WIPF1 (P6S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2423598	NC_000002.11:g.(?_175427275)_(175629122_?)dup	CHRNA1, WIPF1	Duplication	Wiskott-Aldrich syndrome 2	GUncertain significance
Select item 2421712	NM_001375834.1(WIPF1):c.374G>A (p.Arg125Gln)	WIPF1 (R125Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2419805	NM_001375834.1(WIPF1):c.285C>T (p.Gly95=)	WIPF1	Single nucleotide variant (synonymous variant +1 more)	Wiskott-Aldrich syndrome 2	GLikely benign
Select item 2293508	NM_001375834.1(WIPF1):c.1036C>T (p.Pro346Ser)	WIPF1 (P346S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2289290	NM_001375834.1(WIPF1):c.677G>A (p.Arg226His)	WIPF1 (R100H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2270435	NM_001375834.1(WIPF1):c.1113C>A (p.Asp371Glu)	WIPF1 (D245E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2194915	NM_001375834.1(WIPF1):c.1435C>G (p.Leu479Val)	WIPF1 (L353V +1 more)	Single nucleotide variant (missense variant)	Wiskott-Aldrich syndrome 2	GUncertain significance
Select item 2193718	NM_001375834.1(WIPF1):c.1343-14G>C	WIPF1	Single nucleotide variant (intron variant)	Wiskott-Aldrich syndrome 2	GLikely benign
Select item 2192254	NM_001375834.1(WIPF1):c.1364A>G (p.Tyr455Cys)	WIPF1 (Y455C +1 more)	Single nucleotide variant (missense variant)	Wiskott-Aldrich syndrome 2	GUncertain significance
Select item 2179220	NM_001375834.1(WIPF1):c.1007A>G (p.Gln336Arg)	WIPF1 (Q210R +1 more)	Single nucleotide variant (missense variant)	Wiskott-Aldrich syndrome 2	GUncertain significance
Select item 2162116	NM_001375834.1(WIPF1):c.1129+13G>A	WIPF1 (R381H)	Single nucleotide variant (missense variant +1 more)	Wiskott-Aldrich syndrome 2	GLikely benign
Select item 2159625	NM_001375834.1(WIPF1):c.1110G>A (p.Arg370=)	WIPF1	Single nucleotide variant (synonymous variant)	Wiskott-Aldrich syndrome 2	GLikely benign
Select item 2156211	NM_001375834.1(WIPF1):c.358+19T>C	WIPF1	Single nucleotide variant (intron variant)	Wiskott-Aldrich syndrome 2	GLikely benign
Select item 2152752	NM_001375834.1(WIPF1):c.1457G>A (p.Ser486Asn)	WIPF1 (S360N +1 more)	Single nucleotide variant (missense variant)	Wiskott-Aldrich syndrome 2	GUncertain significance
Select item 2152478	NM_001375834.1(WIPF1):c.91G>T (p.Ala31Ser)	WIPF1 (A31S)	Single nucleotide variant (missense variant)	Wiskott-Aldrich syndrome 2	GUncertain significance
Select item 2149325	NM_001375834.1(WIPF1):c.983A>G (p.Asn328Ser)	WIPF1 (N328S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2147525	NM_001375834.1(WIPF1):c.209G>A (p.Gly70Asp)	WIPF1 (G70D)	Single nucleotide variant (missense variant +1 more)	Wiskott-Aldrich syndrome 2	GUncertain significance
Select item 2141767	NM_001375834.1(WIPF1):c.51+19_51+22del	WIPF1	Deletion (intron variant)	Wiskott-Aldrich syndrome 2	GLikely benign
Select item 2141219	NM_001375834.1(WIPF1):c.723C>A (p.Ser241Arg)	WIPF1 (S241R +1 more)	Single nucleotide variant (missense variant)	Wiskott-Aldrich syndrome 2	GUncertain significance
Select item 2125610	NM_001375834.1(WIPF1):c.1116G>T (p.Pro372=)	WIPF1	Single nucleotide variant (synonymous variant)	Wiskott-Aldrich syndrome 2	GLikely benign
Select item 2122655	NM_001375834.1(WIPF1):c.980G>A (p.Gly327Asp)	WIPF1 (G201D +1 more)	Single nucleotide variant (missense variant)	Wiskott-Aldrich syndrome 2	GUncertain significance
Select item 2111703	NM_001375834.1(WIPF1):c.427C>A (p.Pro143Thr)	WIPF1 (P143T)	Single nucleotide variant (missense variant +1 more)	Wiskott-Aldrich syndrome 2	GUncertain significance
Select item 2085693	NM_001375834.1(WIPF1):c.1252C>T (p.Leu418Phe)	WIPF1 (L418F +1 more)	Single nucleotide variant (missense variant)	Wiskott-Aldrich syndrome 2	GUncertain significance
Select item 2080823	NM_001375834.1(WIPF1):c.34C>A (p.Pro12Thr)	WIPF1 (P12T)	Single nucleotide variant (missense variant)	Wiskott-Aldrich syndrome 2	GUncertain significance
Select item 2078078	NM_001375834.1(WIPF1):c.1130-8dup	WIPF1	Duplication (intron variant)	Wiskott-Aldrich syndrome 2	GBenign
Select item 2068000	NM_001375834.1(WIPF1):c.560T>C (p.Val187Ala)	WIPF1 (V187A +1 more)	Single nucleotide variant (missense variant)	Wiskott-Aldrich syndrome 2	GUncertain significance
Select item 2060593	NM_001375834.1(WIPF1):c.217_219dup (p.Gly73_Phe74insGly)	WIPF1	Duplication (inframe_insertion +1 more)	Wiskott-Aldrich syndrome 2	GUncertain significance
Select item 2057415	NM_001375834.1(WIPF1):c.326C>T (p.Pro109Leu)	WIPF1 (P109L)	Single nucleotide variant (missense variant +1 more)	Wiskott-Aldrich syndrome 2	GUncertain significance
Select item 2054063	NM_001375834.1(WIPF1):c.181+13dup	WIPF1	Duplication (intron variant)	Wiskott-Aldrich syndrome 2	GBenign
Select item 2053812	NM_001375834.1(WIPF1):c.51+14C>A	WIPF1	Single nucleotide variant (intron variant)	Wiskott-Aldrich syndrome 2	GLikely benign
Select item 2042893	NM_001375834.1(WIPF1):c.1000C>T (p.Leu334Phe)	WIPF1 (L208F +1 more)	Single nucleotide variant (missense variant)	Wiskott-Aldrich syndrome 2	GUncertain significance
Select item 2036237	NM_001375834.1(WIPF1):c.432A>C (p.Pro144=)	WIPF1	Single nucleotide variant (synonymous variant +1 more)	Wiskott-Aldrich syndrome 2	GLikely benign
Select item 2030108	NM_001375834.1(WIPF1):c.483C>G (p.Pro161=)	WIPF1	Single nucleotide variant (synonymous variant +1 more)	Wiskott-Aldrich syndrome 2	GLikely benign
Select item 2022250	NM_001375834.1(WIPF1):c.606G>T (p.Gly202=)	WIPF1	Single nucleotide variant (synonymous variant)	Wiskott-Aldrich syndrome 2	GLikely benign
Select item 2010675	NM_001375834.1(WIPF1):c.941G>A (p.Ser314Asn)	WIPF1 (S314N +1 more)	Single nucleotide variant (missense variant)	Wiskott-Aldrich syndrome 2	GUncertain significance
Select item 2008032	NM_001375834.1(WIPF1):c.764C>A (p.Thr255Asn)	WIPF1 (T129N +1 more)	Single nucleotide variant (missense variant)	Wiskott-Aldrich syndrome 2	GUncertain significance
Select item 2007910	NM_001375834.1(WIPF1):c.1141C>T (p.Pro381Ser)	WIPF1 (P255S +1 more)	Single nucleotide variant (missense variant)	Wiskott-Aldrich syndrome 2	GUncertain significance
Select item 2003075	NM_001375834.1(WIPF1):c.1283C>G (p.Pro428Arg)	WIPF1 (P302R +1 more)	Single nucleotide variant (missense variant)	Wiskott-Aldrich syndrome 2	GUncertain significance
Select item 1997775	NM_001375834.1(WIPF1):c.182-14C>T	WIPF1	Single nucleotide variant (intron variant)	Wiskott-Aldrich syndrome 2	GLikely benign
Select item 1997650	NM_001375834.1(WIPF1):c.1271G>T (p.Ser424Ile)	WIPF1 (S298I +1 more)	Single nucleotide variant (missense variant)	Wiskott-Aldrich syndrome 2	GUncertain significance
Select item 1994948	NM_001375834.1(WIPF1):c.1043T>C (p.Leu348Ser)	WIPF1 (L348S +1 more)	Single nucleotide variant (missense variant)	Wiskott-Aldrich syndrome 2	GUncertain significance
Select item 1989503	NM_001375834.1(WIPF1):c.444G>A (p.Gly148=)	WIPF1	Single nucleotide variant (synonymous variant +1 more)	Wiskott-Aldrich syndrome 2	GLikely benign
Select item 1985889	NM_001375834.1(WIPF1):c.253G>T (p.Gly85Cys)	WIPF1 (G85C)	Single nucleotide variant (missense variant +1 more)	Wiskott-Aldrich syndrome 2	GUncertain significance
Select item 1980031	NM_001375834.1(WIPF1):c.926C>T (p.Pro309Leu)	WIPF1 (P183L +1 more)	Single nucleotide variant (missense variant)	Wiskott-Aldrich syndrome 2	GUncertain significance
Select item 1979835	NM_001375834.1(WIPF1):c.422T>C (p.Phe141Ser)	WIPF1 (F141S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1964970	NM_001375834.1(WIPF1):c.532T>A (p.Ser178Thr)	WIPF1 (S178T)	Single nucleotide variant (missense variant +1 more)	Wiskott-Aldrich syndrome 2	GUncertain significance
Select item 1964209	NM_001375834.1(WIPF1):c.893C>G (p.Pro298Arg)	WIPF1 (P298R +1 more)	Single nucleotide variant (missense variant)	Wiskott-Aldrich syndrome 2	GUncertain significance
Select item 1958712	NM_001375834.1(WIPF1):c.1426C>A (p.Pro476Thr)	WIPF1 (P476T +1 more)	Single nucleotide variant (missense variant)	Wiskott-Aldrich syndrome 2	GUncertain significance

<< First< Prev

Page of 4