PIWIL4[gene] - ClinVar

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

Search results

Items: 80

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144356	GRCh38/hg38 11q13.5-22.1(chr11:75941754-98357960)x1	AAMDC, ACER3 +474 more	Copy number loss	See cases	GPathogenic
Select item 58918	GRCh38/hg38 11q14.1-22.3(chr11:78232836-106779420)x1	LINC02553, LINC02700 +528 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 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 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 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 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 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 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 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 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 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 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 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 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 785377	NM_152431.3(PIWIL4):c.705T>A (p.Ile235=)	PIWIL4, PIWIL4-AS1	Single nucleotide variant (synonymous variant)	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 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 785378	NM_152431.3(PIWIL4):c.801C>T (p.Val267=)	PIWIL4, PIWIL4-AS1	Single nucleotide variant (synonymous 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 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 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 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 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 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 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 730869	NM_152431.3(PIWIL4):c.1269-4A>G	PIWIL4, PIWIL4-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 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 2642297	NM_152431.3(PIWIL4):c.1392G>A (p.Val464=)	PIWIL4, PIWIL4-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 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 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 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 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 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 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 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 779311	NM_152431.3(PIWIL4):c.1762A>G (p.Met588Val)	PIWIL4, PIWIL4-AS1 (M588V)	Single nucleotide variant (missense variant)	not provided	GBenign
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 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 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 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 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 2642298	NM_152431.3(PIWIL4):c.1914C>T (p.Cys638=)	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 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 2642300	NM_152431.3(PIWIL4):c.2052G>A (p.Leu684=)	PIWIL4, PIWIL4-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 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 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 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 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 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 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 2685418	GRCh37/hg19 11q21(chr11:94130774-94676552)x1	AMOTL1, ANKRD49 +4 more	Copy number loss	not provided	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 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	GRIA4, GRIK4 +956 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	PCSK7, PGR +183 more	Copy number loss	not provided	GUncertain significance
Select item 1075501	NC_000011.9:g.(?_94153285)_(111965700_?)del	PIH1D2, PIWIL4 +95 more	Deletion	Ataxia-telangiectasia syndrome	GPathogenic
Select item 997825	Single allele	ACER3, ACP2 +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 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)	ACP2, CREBZF +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	GALNT18, MPZL3 +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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 80