WIPF1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154177	GRCh38/hg38 2q24.1-31.1(chr2:154294042-175989372)x3	LOC129935011, LOC129935012 +530 more	Copy number gain	See cases	GPathogenic
Select item 60248	GRCh38/hg38 2q24.3-32.1(chr2:163965382-182195062)x1	ABCB11, AGPS +488 more	Copy number loss	See cases	GPathogenic
Select item 57491	GRCh38/hg38 2q24.3-31.1(chr2:164850117-175559190)x1	ABCB11, ATF2 +269 more	Copy number loss	See cases	GPathogenic
Select item 60253	GRCh38/hg38 2q31.1-32.1(chr2:170407688-186189894)x1	AGPS, ATF2 +411 more	Copy number loss	See cases	GPathogenic
Select item 147692	GRCh38/hg38 2q31.1-32.2(chr2:171429233-189179568)x1	AGPS, ATF2 +417 more	Copy number loss	See cases	GPathogenic
Select item 150849	GRCh38/hg38 2q31.1-31.2(chr2:171513047-177854080)x1	AGPS, ATF2 +214 more	Copy number loss	See cases	GPathogenic
Select item 58766	GRCh38/hg38 2q31.1(chr2:172366752-176361187)x1	ATF2, ATP5MC3 +136 more	Copy number loss	See cases	GPathogenic
Select item 57130	GRCh38/hg38 2q31.1-31.2(chr2:172779876-177598000)x1	ATP5MC3, ATF2 +159 more	Copy number loss	See cases	GPathogenic
Select item 58767	GRCh38/hg38 2q31.1-31.2(chr2:173408061-177702487)x1	AGPS, ATF2 +150 more	Copy number loss	See cases	GPathogenic
Select item 58768	GRCh38/hg38 2q31.1(chr2:173699279-175586070)x1	ATF2, ATP5MC3 +68 more	Copy number loss	See cases	GPathogenic
Select item 154811	GRCh38/hg38 2q31.1(chr2:173713838-175467462)x1	ATF2, ATP5MC3 +66 more	Copy number loss	See cases	GPathogenic
Select item 149687	GRCh38/hg38 2q31.1(chr2:173713838-175467462)x3	ATF2, ATP5MC3 +66 more	Copy number gain	See cases	Gconflicting data from submitters
Select item 155530	GRCh38/hg38 2q31.1-31.3(chr2:174236451-181188846)x1	AGPS, ATF2 +224 more	Copy number loss	See cases	GPathogenic
Select item 646952	NC_000002.11:g.(?_175427255)_(175450321_?)dup	LOC129935136, WIPF1	Duplication	Wiskott-Aldrich syndrome 2	GUncertain significance
Select item 1126613	NM_001375834.1(WIPF1):c.1506G>A (p.Pro502=)	WIPF1	Single nucleotide variant (synonymous variant)	Wiskott-Aldrich syndrome 2	GLikely benign
Select item 1397338	NM_001375834.1(WIPF1):c.1505C>T (p.Pro502Leu)	WIPF1 (P376L +1 more)	Single nucleotide variant (missense variant)	Wiskott-Aldrich syndrome 2	GUncertain significance
Select item 797323	NM_001375834.1(WIPF1):c.1497T>A (p.Pro499=)	WIPF1	Single nucleotide variant (synonymous variant)	Wiskott-Aldrich syndrome 2	GLikely benign
Select item 1054813	NM_001375834.1(WIPF1):c.1481G>A (p.Gly494Asp)	WIPF1 (G368D +1 more)	Single nucleotide variant (missense variant)	Wiskott-Aldrich syndrome 2	GUncertain significance
Select item 1006851	NM_001375834.1(WIPF1):c.1468C>T (p.Arg490Ter)	WIPF1 (R364* +1 more)	Single nucleotide variant (nonsense)	Wiskott-Aldrich syndrome 2	GUncertain significance
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 1548910	NM_001375834.1(WIPF1):c.1457-13T>C	WIPF1	Single nucleotide variant (intron 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 1263797	NM_001375834.1(WIPF1):c.1456+91G>C	WIPF1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1926913	NM_001375834.1(WIPF1):c.1456+9T>C	WIPF1	Single nucleotide variant (intron variant)	Wiskott-Aldrich syndrome 2	GLikely benign
Select item 862621	NM_001375834.1(WIPF1):c.1454G>A (p.Arg485Gln)	WIPF1 (R359Q +1 more)	Single nucleotide variant (missense variant)	Wiskott-Aldrich syndrome 2	GUncertain significance
Select item 1400723	NM_001375834.1(WIPF1):c.1453C>T (p.Arg485Trp)	WIPF1 (R359W +1 more)	Single nucleotide variant (missense variant)	Wiskott-Aldrich syndrome 2	GUncertain significance
Select item 403609	NM_001375834.1(WIPF1):c.1446C>T (p.Asn482=)	WIPF1	Single nucleotide variant (synonymous variant)	Wiskott-Aldrich syndrome 2 +1 more	GBenign/Likely benign
Select item 961705	NM_001375834.1(WIPF1):c.1441A>G (p.Arg481Gly)	WIPF1 (R481G +1 more)	Single nucleotide variant (missense variant)	Wiskott-Aldrich syndrome 2	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 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
Select item 472920	NM_001375834.1(WIPF1):c.1413G>A (p.Thr471=)	WIPF1	Single nucleotide variant (synonymous variant)	Wiskott-Aldrich syndrome 2	GBenign
Select item 1163805	NM_001375834.1(WIPF1):c.1412C>T (p.Thr471Met)	WIPF1 (T345M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 540145	NM_001375834.1(WIPF1):c.1380C>T (p.Ser460=)	WIPF1	Single nucleotide variant (synonymous variant)	Wiskott-Aldrich syndrome 2	GConflicting classifications of pathogenicity
Select item 756846	NM_001375834.1(WIPF1):c.1374G>A (p.Pro458=)	WIPF1	Single nucleotide variant (synonymous variant)	Wiskott-Aldrich syndrome 2	GLikely benign
Select item 1470476	NM_001375834.1(WIPF1):c.1373C>T (p.Pro458Leu)	WIPF1 (P332L +1 more)	Single nucleotide variant (missense variant)	Wiskott-Aldrich syndrome 2	GUncertain significance
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 1713557	NM_001375834.1(WIPF1):c.1361T>A (p.Phe454Tyr)	WIPF1 (F328Y +1 more)	Single nucleotide variant (missense variant)	Wiskott-Aldrich syndrome 2	GUncertain significance
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 2695612	NM_001375834.1(WIPF1):c.1343-14G>A	WIPF1	Single nucleotide variant (intron variant)	Wiskott-Aldrich syndrome 2	GLikely benign
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 2897980	NM_001375834.1(WIPF1):c.1343-20C>T	WIPF1	Single nucleotide variant (intron variant)	Wiskott-Aldrich syndrome 2	GLikely benign
Select item 1229378	NM_001375834.1(WIPF1):c.1343-145C>T	WIPF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287708	NM_001375834.1(WIPF1):c.1343-187C>T	WIPF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1165801	NM_001375834.1(WIPF1):c.1342+20C>T	WIPF1	Single nucleotide variant (intron variant)	Wiskott-Aldrich syndrome 2	GBenign
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 1443055	NM_001375834.1(WIPF1):c.1316A>G (p.Asn439Ser)	WIPF1 (N313S +1 more)	Single nucleotide variant (missense variant)	Wiskott-Aldrich syndrome 2	GUncertain significance
Select item 1119455	NM_001375834.1(WIPF1):c.1314A>G (p.Arg438=)	WIPF1	Single nucleotide variant (synonymous variant)	Wiskott-Aldrich syndrome 2	GLikely benign
Select item 1498553	NM_001375834.1(WIPF1):c.1303A>G (p.Thr435Ala)	WIPF1 (T435A +1 more)	Single nucleotide variant (missense variant)	Wiskott-Aldrich syndrome 2	GUncertain significance
Select item 30266	NM_001375834.1(WIPF1):c.1301C>G (p.Ser434Ter)	WIPF1 (S434* +1 more)	Single nucleotide variant (nonsense)	Wiskott-Aldrich syndrome 2	GPathogenic
Select item 1556753	NM_001375834.1(WIPF1):c.1299A>G (p.Pro433=)	WIPF1	Single nucleotide variant (synonymous variant)	Wiskott-Aldrich syndrome 2	GLikely benign
Select item 540148	NM_001375834.1(WIPF1):c.1296A>G (p.Pro432=)	WIPF1	Single nucleotide variant (synonymous variant)	Wiskott-Aldrich syndrome 2 +1 more	GBenign
Select item 968112	NM_001375834.1(WIPF1):c.1295C>T (p.Pro432Leu)	WIPF1 (P432L +1 more)	Single nucleotide variant (missense variant)	Wiskott-Aldrich syndrome 2	GUncertain significance
Select item 1401726	NM_001375834.1(WIPF1):c.1289C>A (p.Pro430Gln)	WIPF1 (P430Q +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 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 3017662	NM_001375834.1(WIPF1):c.1264A>C (p.Arg422=)	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 1462702	NM_001375834.1(WIPF1):c.1258C>T (p.Pro420Ser)	WIPF1 (P294S +1 more)	Single nucleotide variant (missense variant)	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 945419	NM_001375834.1(WIPF1):c.1252C>G (p.Leu418Val)	WIPF1 (L418V +1 more)	Single nucleotide variant (missense variant)	Wiskott-Aldrich syndrome 2	GUncertain significance
Select item 252517	NM_001375834.1(WIPF1):c.1246C>T (p.Pro416Ser)	WIPF1 (P416S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 1041875	NM_001375834.1(WIPF1):c.1233G>T (p.Arg411Ser)	WIPF1 (R285S +1 more)	Single nucleotide variant (missense variant)	Wiskott-Aldrich syndrome 2	GUncertain significance
Select item 1150946	NM_001375834.1(WIPF1):c.1230C>G (p.Pro410=)	WIPF1	Single nucleotide variant (synonymous variant)	Wiskott-Aldrich syndrome 2	GLikely benign
Select item 969531	NM_001375834.1(WIPF1):c.1229C>A (p.Pro410His)	WIPF1 (P410H +1 more)	Single nucleotide variant (missense variant)	Wiskott-Aldrich syndrome 2	GUncertain significance
Select item 728142	NM_001375834.1(WIPF1):c.1227T>C (p.Ser409=)	WIPF1	Single nucleotide variant (synonymous variant)	Wiskott-Aldrich syndrome 2	GBenign
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 1431031	NM_001375834.1(WIPF1):c.1196C>G (p.Pro399Arg)	WIPF1 (P273R +1 more)	Single nucleotide variant (missense variant)	Wiskott-Aldrich syndrome 2	GUncertain significance
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 1063135	NM_001375834.1(WIPF1):c.1177C>T (p.Arg393Trp)	WIPF1 (R267W +1 more)	Single nucleotide variant (missense variant)	Wiskott-Aldrich syndrome 2 +1 more	GUncertain significance
Select item 797992	NM_001375834.1(WIPF1):c.1170C>T (p.Ser390=)	WIPF1	Single nucleotide variant (synonymous variant)	Wiskott-Aldrich syndrome 2	GLikely benign
Select item 733279	NM_001375834.1(WIPF1):c.1164C>T (p.Asn388=)	WIPF1	Single nucleotide variant (synonymous variant)	Wiskott-Aldrich syndrome 2	GBenign
Select item 973616	NM_001375834.1(WIPF1):c.1162A>C (p.Asn388His)	WIPF1 (N262H +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 1493985	NM_001375834.1(WIPF1):c.1133C>T (p.Pro378Leu)	WIPF1 (P252L +1 more)	Single nucleotide variant (missense variant)	Wiskott-Aldrich syndrome 2	GUncertain significance
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 2845811	NM_001375834.1(WIPF1):c.1131C>A (p.Gly377=)	WIPF1	Single nucleotide variant (synonymous variant)	Wiskott-Aldrich syndrome 2	GLikely benign
Select item 1107360	NM_001375834.1(WIPF1):c.1130-4C>T	WIPF1	Single nucleotide variant (intron variant)	Wiskott-Aldrich syndrome 2	GLikely benign
Select item 2078078	NM_001375834.1(WIPF1):c.1130-8dup	WIPF1	Duplication (intron variant)	Wiskott-Aldrich syndrome 2	GBenign
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 1620436	NM_001375834.1(WIPF1):c.1130-18T>C	WIPF1	Single nucleotide variant (intron variant)	Wiskott-Aldrich syndrome 2	GLikely benign
Select item 2682756	NM_001375834.1(WIPF1):c.1130-20A>C	WIPF1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1908814	NM_001375834.1(WIPF1):c.1129+16G>C	WIPF1 (G382A)	Single nucleotide variant (missense variant +1 more)	Wiskott-Aldrich syndrome 2	GLikely benign
Select item 2162116	NM_001375834.1(WIPF1):c.1129+13G>A	WIPF1 (R381H)	Single nucleotide variant (intron variant +1 more)	Wiskott-Aldrich syndrome 2	GLikely benign
Select item 1098030	NM_001375834.1(WIPF1):c.1129+10G>A	WIPF1 (R380K)	Single nucleotide variant (missense variant +1 more)	WIPF1-related disorder +1 more	GLikely benign
Select item 1577435	NM_001375834.1(WIPF1):c.1129+9A>G	WIPF1 (R380G)	Single nucleotide variant (missense variant +1 more)	Wiskott-Aldrich syndrome 2	GLikely benign
Select item 1661247	NM_001375834.1(WIPF1):c.1129+7C>G	WIPF1 (T379R)	Single nucleotide variant (missense variant +1 more)	Wiskott-Aldrich syndrome 2	GLikely benign
Select item 1603391	NM_001375834.1(WIPF1):c.1122C>A (p.Gly374=)	WIPF1	Single nucleotide variant (synonymous variant)	Wiskott-Aldrich syndrome 2	GLikely benign
Select item 1425049	NM_001375834.1(WIPF1):c.1122C>T (p.Gly374=)	WIPF1	Single nucleotide variant (synonymous variant)	Wiskott-Aldrich syndrome 2	GLikely benign
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 758055	NM_001375834.1(WIPF1):c.1116G>A (p.Pro372=)	WIPF1	Single nucleotide variant (synonymous variant)	Wiskott-Aldrich syndrome 2 +1 more	GLikely benign
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 2159625	NM_001375834.1(WIPF1):c.1110G>A (p.Arg370=)	WIPF1	Single nucleotide variant (synonymous variant)	Wiskott-Aldrich syndrome 2	GLikely benign
Select item 1038152	NM_001375834.1(WIPF1):c.1100C>T (p.Pro367Leu)	WIPF1 (P367L +1 more)	Single nucleotide variant (missense variant)	Wiskott-Aldrich syndrome 2	GUncertain significance
Select item 1051683	NM_001375834.1(WIPF1):c.1094C>T (p.Pro365Leu)	WIPF1 (P239L +1 more)	Single nucleotide variant (missense variant)	Wiskott-Aldrich syndrome 2	GUncertain significance
Select item 1573379	NM_001375834.1(WIPF1):c.1092A>G (p.Arg364=)	WIPF1	Single nucleotide variant (synonymous variant)	Wiskott-Aldrich syndrome 2	GLikely benign
Select item 540144	NM_001375834.1(WIPF1):c.1085G>A (p.Ser362Asn)	WIPF1 (S362N +1 more)	Single nucleotide variant (missense variant)	Wiskott-Aldrich syndrome 2	GUncertain significance
Select item 540142	NM_001375834.1(WIPF1):c.1084A>G (p.Ser362Gly)	WIPF1 (S362G +1 more)	Single nucleotide variant (missense variant)	Wiskott-Aldrich syndrome 2	GUncertain significance
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 1004966	NM_001375834.1(WIPF1):c.1078C>T (p.Pro360Ser)	WIPF1 (P234S +1 more)	Single nucleotide variant (missense variant)	Wiskott-Aldrich syndrome 2	GUncertain significance

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