ClinVar for Gene (Select 143689) - ClinVar

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Links from Gene

Items: 85

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3306779	NM_152431.3(PIWIL4):c.110A>G (p.Asn37Ser)	PIWIL4, PIWIL4-AS1 (N37S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306778	NM_152431.3(PIWIL4):c.2266G>T (p.Val756Leu)	PIWIL4, PIWIL4-AS1 (V756L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306777	NM_152431.3(PIWIL4):c.622A>G (p.Ile208Val)	PIWIL4, PIWIL4-AS1 (I208V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306776	NM_152431.3(PIWIL4):c.1229G>A (p.Arg410Gln)	PIWIL4, PIWIL4-AS1 (R410Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306775	NM_152431.3(PIWIL4):c.611A>G (p.Gln204Arg)	PIWIL4, PIWIL4-AS1 (Q204R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213385	NM_152431.3(PIWIL4):c.809A>T (p.Asn270Ile)	PIWIL4, PIWIL4-AS1 (N270I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213382	NM_152431.3(PIWIL4):c.671G>C (p.Arg224Pro)	PIWIL4, PIWIL4-AS1 (R224P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213381	NM_152431.3(PIWIL4):c.266A>G (p.Glu89Gly)	PIWIL4, PIWIL4-AS1 (E89G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213379	NM_152431.3(PIWIL4):c.220G>A (p.Val74Met)	PIWIL4, PIWIL4-AS1 (V74M)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3213377	NM_152431.3(PIWIL4):c.1816G>A (p.Glu606Lys)	PIWIL4, PIWIL4-AS1 (E606K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213376	NM_152431.3(PIWIL4):c.1739G>A (p.Arg580Gln)	PIWIL4, PIWIL4-AS1 (R580Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213375	NM_152431.3(PIWIL4):c.1738C>T (p.Arg580Trp)	PIWIL4, PIWIL4-AS1 (R580W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213374	NM_152431.3(PIWIL4):c.1498G>A (p.Glu500Lys)	PIWIL4, PIWIL4-AS1 (E500K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213372	NM_152431.3(PIWIL4):c.1298C>A (p.Thr433Asn)	PIWIL4, PIWIL4-AS1 (T433N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685418	GRCh37/hg19 11q21(chr11:94130774-94676552)x1	AMOTL1, ANKRD49 +4 more	Copy number loss	not provided	GUncertain significance
Select item 2642300	NM_152431.3(PIWIL4):c.2052G>A (p.Leu684=)	PIWIL4, PIWIL4-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2642299	NM_152431.3(PIWIL4):c.1944G>A (p.Arg648=)	PIWIL4, PIWIL4-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2642298	NM_152431.3(PIWIL4):c.1914C>T (p.Cys638=)	PIWIL4, PIWIL4-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2642297	NM_152431.3(PIWIL4):c.1392G>A (p.Val464=)	PIWIL4, PIWIL4-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2623292	NM_152431.3(PIWIL4):c.1400C>G (p.Ala467Gly)	PIWIL4, PIWIL4-AS1 (A467G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614001	NM_152431.3(PIWIL4):c.2344C>G (p.Pro782Ala)	PIWIL4, PIWIL4-AS1 (P782A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2582900	GRCh37/hg19 11q21(chr11:94126651-94331081)x1	ANKRD49, FUT4 +3 more	Copy number loss	not provided	GLikely pathogenic
Select item 2546441	NM_152431.3(PIWIL4):c.2449G>A (p.Val817Ile)	PIWIL4, PIWIL4-AS1 (V817I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2536434	NM_152431.3(PIWIL4):c.460G>A (p.Ala154Thr)	PIWIL4, PIWIL4-AS1 (A154T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516845	NM_152431.3(PIWIL4):c.2224G>A (p.Glu742Lys)	PIWIL4, PIWIL4-AS1 (E742K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512007	NM_152431.3(PIWIL4):c.794A>G (p.Tyr265Cys)	PIWIL4, PIWIL4-AS1 (Y265C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496357	NM_152431.3(PIWIL4):c.1237C>T (p.Arg413Cys)	PIWIL4, PIWIL4-AS1 (R413C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482295	NM_152431.3(PIWIL4):c.1256A>G (p.Asp419Gly)	PIWIL4, PIWIL4-AS1 (D419G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473945	NM_152431.3(PIWIL4):c.2252C>A (p.Pro751Gln)	PIWIL4, PIWIL4-AS1 (P751Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468402	NM_152431.3(PIWIL4):c.1774G>A (p.Ala592Thr)	PIWIL4, PIWIL4-AS1 (A592T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464261	NM_152431.3(PIWIL4):c.1726T>C (p.Cys576Arg)	PIWIL4, PIWIL4-AS1 (C576R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462307	NM_152431.3(PIWIL4):c.508G>A (p.Glu170Lys)	PIWIL4, PIWIL4-AS1 (E170K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406176	NM_152431.3(PIWIL4):c.1238G>A (p.Arg413His)	PIWIL4, PIWIL4-AS1 (R413H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390235	NM_152431.3(PIWIL4):c.1375C>T (p.His459Tyr)	PIWIL4, PIWIL4-AS1 (H459Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380709	NM_152431.3(PIWIL4):c.130A>G (p.Asn44Asp)	PIWIL4, PIWIL4-AS1 (N44D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363686	NM_152431.3(PIWIL4):c.2032T>C (p.Tyr678His)	PIWIL4, PIWIL4-AS1 (Y678H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348967	NM_152431.3(PIWIL4):c.1828G>C (p.Val610Leu)	PIWIL4, PIWIL4-AS1 (V610L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344238	NM_152431.3(PIWIL4):c.2186T>C (p.Ile729Thr)	PIWIL4, PIWIL4-AS1 (I729T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328676	NM_152431.3(PIWIL4):c.1810G>A (p.Gly604Arg)	PIWIL4, PIWIL4-AS1 (G604R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327245	NM_152431.3(PIWIL4):c.1399G>A (p.Ala467Thr)	PIWIL4, PIWIL4-AS1 (A467T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324356	NM_152431.3(PIWIL4):c.655A>G (p.Met219Val)	PIWIL4, PIWIL4-AS1 (M219V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319601	NM_152431.3(PIWIL4):c.1306C>A (p.Leu436Met)	PIWIL4, PIWIL4-AS1 (L436M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319496	NM_152431.3(PIWIL4):c.1531G>T (p.Gly511Cys)	PIWIL4, PIWIL4-AS1 (G511C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297288	NM_152431.3(PIWIL4):c.662A>G (p.Gln221Arg)	PIWIL4, PIWIL4-AS1 (Q221R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288181	NM_152431.3(PIWIL4):c.915A>T (p.Arg305Ser)	PIWIL4, PIWIL4-AS1 (R305S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281320	NM_152431.3(PIWIL4):c.2222C>A (p.Thr741Asn)	PIWIL4, PIWIL4-AS1 (T741N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261190	NM_152431.3(PIWIL4):c.680A>G (p.Tyr227Cys)	PIWIL4, PIWIL4-AS1 (Y227C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254368	NM_152431.3(PIWIL4):c.2329C>T (p.Arg777Trp)	PIWIL4, PIWIL4-AS1 (R777W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253443	NM_152431.3(PIWIL4):c.1853T>C (p.Met618Thr)	PIWIL4, PIWIL4-AS1 (M618T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244047	NM_152431.3(PIWIL4):c.437G>T (p.Ser146Ile)	PIWIL4, PIWIL4-AS1 (S146I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242991	NM_152431.3(PIWIL4):c.49A>C (p.Ser17Arg)	PIWIL4, PIWIL4-AS1 (S17R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220019	NM_152431.3(PIWIL4):c.2515A>C (p.Lys839Gln)	PIWIL4, PIWIL4-AS1 (K839Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204314	NM_152431.3(PIWIL4):c.1602A>C (p.Arg534Ser)	PIWIL4, PIWIL4-AS1 (R534S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809349	GRCh37/hg19 11q14.1-22.3(chr11:81478509-104667040)x1	AMOTL1, ANGPTL5 +93 more	Copy number loss	not provided	GPathogenic
Select item 1809223	GRCh37/hg19 11q21(chr11:94344842-94430838)x1	PIWIL4	Copy number loss	not provided	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1527663	GRCh37/hg19 11q21(chr11:93975926-94529037)	AMOTL1, ANKRD49 +5 more	Copy number gain	not specified	GUncertain significance
Select item 1527661	GRCh37/hg19 11q14.3-21(chr11:90906452-94437087)	ANKRD49, C11orf54 +16 more	Copy number gain	not specified	GUncertain significance
Select item 1527655	GRCh37/hg19 11q14.1-21(chr11:80318996-96116221)	AMOTL1, ANKRD42 +66 more	Copy number loss	not specified	GPathogenic
Select item 1527654	GRCh37/hg19 11q14.1-22.1(chr11:77855209-98002445)	AMOTL1, ANKRD42 +72 more	Copy number loss	not specified	GPathogenic
Select item 1340004	GRCh37/hg19 11q14.1-23.3(chr11:85422071-118022671)x1	AASDHPPT, ACAT1 +182 more	Copy number loss	not provided	GUncertain significance
Select item 1075501	NC_000011.9:g.(?_94153285)_(111965700_?)del	FDXACB1, FUT4 +94 more	Deletion	Ataxia-telangiectasia syndrome	GPathogenic
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 980970	GRCh37/hg19 11q21(chr11:93676223-94342737)x3	ANKRD49, FUT4 +6 more	Copy number gain	not provided	GUncertain significance
Select item 790651	NM_152431.3(PIWIL4):c.1514G>T (p.Cys505Phe)	PIWIL4, PIWIL4-AS1 (C505F)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 785378	NM_152431.3(PIWIL4):c.801C>T (p.Val267=)	PIWIL4, PIWIL4-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 785377	NM_152431.3(PIWIL4):c.705T>A (p.Ile235=)	PIWIL4, PIWIL4-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 779311	NM_152431.3(PIWIL4):c.1762A>G (p.Met588Val)	PIWIL4, PIWIL4-AS1 (M588V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 775296	NM_152431.3(PIWIL4):c.1063A>G (p.Met355Val)	PIWIL4, PIWIL4-AS1 (M355V)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 774699	NM_152431.3(PIWIL4):c.766A>C (p.Lys256Gln)	PIWIL4, PIWIL4-AS1 (K256Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 730869	NM_152431.3(PIWIL4):c.1269-4A>G	PIWIL4, PIWIL4-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 728680	NM_152431.3(PIWIL4):c.806G>A (p.Arg269Gln)	PIWIL4, PIWIL4-AS1 (R269Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 563885	GRCh37/hg19 11q13.4-23.3(chr11:71588805-116680918)x3	AAMDC, AASDHPPT +261 more	Copy number gain	not provided	GPathogenic
Select item 563862	GRCh37/hg19 11q21(chr11:93989761-94819546)x3	KDM4E, PIWIL4 +9 more	Copy number gain	not provided	GUncertain significance
Select item 563856	GRCh37/hg19 11q21(chr11:93975926-94626160)x3	PIWIL4, GPR83 +5 more	Copy number gain	not provided	GUncertain significance
Select item 563844	GRCh37/hg19 11q21(chr11:93934796-94301509)x3	MRE11, PIWIL4 +4 more	Copy number gain	not provided	GUncertain significance
Select item 563819	GRCh37/hg19 11q21(chr11:94321093-94463156)x1	PIWIL4	Copy number loss	not provided	GLikely benign
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441837	GRCh37/hg19 11q14.2-22.3(chr11:88152458-109414650)x1	AASDHPPT, ACAT1 +95 more	Copy number loss	See cases	GPathogenic
Select item 148976	GRCh38/hg38 11q14.3-22.3(chr11:91086659-109595582)x1	LOC130006596, LOC130006597 +387 more	Copy number loss	See cases	GPathogenic
Select item 145480	GRCh38/hg38 11q21(chr11:94324282-96081666)x3	AMOTL1, ANKRD49 +57 more	Copy number gain	See cases	GUncertain significance
Select item 144356	GRCh38/hg38 11q13.5-22.1(chr11:75941754-98357960)x1	LOC130006570, LOC130006571 +474 more	Copy number loss	See cases	GPathogenic
Select item 58919	GRCh38/hg38 11q14.1-22.2(chr11:85242847-102920097)x1	LOC101929174, LOC102723838 +378 more	Copy number loss	See cases	GPathogenic
Select item 58918	GRCh38/hg38 11q14.1-22.3(chr11:78232836-106779420)x1	KBTBD3, KDM4D +528 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 85