29185[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC129937268, LOC129937269 +2645 more	Copy number gain	See cases	GPathogenic
Select item 57982	GRCh38/hg38 3q24-26.32(chr3:147442566-178522531)x3	LOC129937944, LOC129937945 +630 more	Copy number gain	See cases	GPathogenic
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	BDH1, C3orf33 +1449 more	Copy number gain	See cases	GPathogenic
Select item 150609	GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3	LOC129938007, LOC129938008 +1317 more	Copy number gain	See cases	GPathogenic
Select item 144842	GRCh38/hg38 3q25.31(chr3:155388702-155490802)x3	LOC123230398, PLCH1 +2 more	Copy number gain	See cases	GBenign
Select item 3214547	NM_014996.4(PLCH1):c.4976A>G (p.Gln1659Arg)	PLCH1 (Q1667R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3214546	NM_014996.4(PLCH1):c.4961A>T (p.Tyr1654Phe)	PLCH1 (Y1662F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2397289	NM_014996.4(PLCH1):c.4922G>T (p.Gly1641Val)	PLCH1 (G1640V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3214545	NM_014996.4(PLCH1):c.4906G>A (p.Gly1636Arg)	PLCH1 (G1636R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2220482	NM_014996.4(PLCH1):c.4901C>T (p.Thr1634Met)	PLCH1 (T1633M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2391477	NM_014996.4(PLCH1):c.4882G>T (p.Ala1628Ser)	PLCH1 (A1636S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2225768	NM_014996.4(PLCH1):c.4882G>A (p.Ala1628Thr)	PLCH1 (A1627T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2288495	NM_014996.4(PLCH1):c.4881C>G (p.Ile1627Met)	PLCH1 (I1627M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3214544	NM_014996.4(PLCH1):c.4870G>A (p.Gly1624Ser)	PLCH1 (G1623S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 774851	NM_014996.4(PLCH1):c.4831C>A (p.Pro1611Thr)	PLCH1 (P1610T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2455998	NM_014996.4(PLCH1):c.4736G>A (p.Arg1579His)	PLCH1 (R1587H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2521958	NM_014996.4(PLCH1):c.4733T>C (p.Val1578Ala)	PLCH1 (V1577A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2342465	NM_014996.4(PLCH1):c.4691G>A (p.Arg1564Gln)	PLCH1 (R1563Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2603555	NM_014996.4(PLCH1):c.4660T>C (p.Tyr1554His)	PLCH1 (Y1553H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2340595	NM_014996.4(PLCH1):c.4616G>A (p.Arg1539Gln)	PLCH1 (R1539Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3214543	NM_014996.4(PLCH1):c.4567G>A (p.Val1523Met)	PLCH1 (V1523M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2255395	NM_014996.4(PLCH1):c.4540G>A (p.Gly1514Ser)	PLCH1 (G1522S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3214542	NM_014996.4(PLCH1):c.4373A>C (p.Gln1458Pro)	PLCH1 (Q1457P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3214541	NM_014996.4(PLCH1):c.4361A>C (p.Gln1454Pro)	PLCH1 (Q1454P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2595574	NM_014996.4(PLCH1):c.4341C>G (p.Phe1447Leu)	PLCH1 (F1447L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2222690	NM_014996.4(PLCH1):c.4324T>G (p.Ser1442Ala)	PLCH1 (S1441A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2604920	NM_014996.4(PLCH1):c.4252G>C (p.Asp1418His)	PLCH1 (D1417H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3214540	NM_014996.4(PLCH1):c.4219C>T (p.Pro1407Ser)	PLCH1 (P1406S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2515071	NM_014996.4(PLCH1):c.4216C>T (p.Arg1406Cys)	PLCH1 (R1414C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2405254	NM_014996.4(PLCH1):c.4082T>C (p.Leu1361Pro)	PLCH1 (L1360P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2267696	NM_014996.4(PLCH1):c.4022C>T (p.Thr1341Ile)	PLCH1 (T1340I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3214539	NM_014996.4(PLCH1):c.3971G>T (p.Ser1324Ile)	PLCH1 (S1323I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2463258	NM_014996.4(PLCH1):c.3910C>T (p.Arg1304Cys)	PLCH1 (R1303C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3214538	NM_014996.4(PLCH1):c.3884A>G (p.Asn1295Ser)	PLCH1 (N1294S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2654248	NM_014996.4(PLCH1):c.3870G>A (p.Ala1290=)	PLCH1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2367893	NM_014996.4(PLCH1):c.3869C>T (p.Ala1290Val)	PLCH1 (A1290V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2510693	NM_014996.4(PLCH1):c.3843T>A (p.Asp1281Glu)	PLCH1 (D1289E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 711902	NM_014996.4(PLCH1):c.3840T>C (p.Asp1280=)	PLCH1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2592377	NM_014996.4(PLCH1):c.3800A>G (p.Tyr1267Cys)	PLCH1 (Y1266C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3214537	NM_014996.4(PLCH1):c.3743C>T (p.Pro1248Leu)	PLCH1 (P1256L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2278111	NM_014996.4(PLCH1):c.3685C>T (p.Pro1229Ser)	PLCH1 (P1228S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2596086	NM_014996.4(PLCH1):c.3638G>A (p.Ser1213Asn)	PLCH1 (S1213N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2237655	NM_014996.4(PLCH1):c.3575T>C (p.Ile1192Thr)	PLCH1 (I1192T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2243594	NM_014996.4(PLCH1):c.3551C>T (p.Pro1184Leu)	PLCH1 (P1183L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2327370	NM_014996.4(PLCH1):c.3498G>C (p.Glu1166Asp)	PLCH1 (E1165D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 714211	NM_014996.4(PLCH1):c.3471C>A (p.Asp1157Glu)	PLCH1 (D1156E +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2278988	NM_014996.4(PLCH1):c.3460G>C (p.Asp1154His)	PLCH1 (D1153H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3214535	NM_014996.4(PLCH1):c.3394G>T (p.Gly1132Cys)	PLCH1 (G1132C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 774172	NM_014996.4(PLCH1):c.3354C>T (p.Ser1118=)	PLCH1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 774852	NM_014996.4(PLCH1):c.3313C>T (p.Pro1105Ser)	PLCH1 (P1113S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2290746	NM_014996.4(PLCH1):c.3259G>A (p.Val1087Ile)	PLCH1 (V1086I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2247381	NM_014996.4(PLCH1):c.3250C>A (p.Pro1084Thr)	PLCH1 (P1092T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2539557	NM_014996.4(PLCH1):c.3248C>T (p.Ala1083Val)	PLCH1 (A1082V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1687100	NM_014996.4(PLCH1):c.3211del (p.Cys1071fs)	PLCH1 (C1070fs +2 more)	Deletion (frameshift variant +1 more)	Holoprosencephaly 14	GPathogenic
Select item 2290582	NM_014996.4(PLCH1):c.3155G>A (p.Ser1052Asn)	PLCH1 (S1052N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3214534	NM_014996.4(PLCH1):c.3124T>G (p.Ser1042Ala)	PLCH1 (S1041A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2482523	NM_014996.4(PLCH1):c.3123G>A (p.Met1041Ile)	PLCH1 (M1041I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2620796	NM_014996.4(PLCH1):c.3062C>T (p.Ser1021Phe)	PLCH1 (S1021F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2528286	NM_014996.4(PLCH1):c.3015A>G (p.Ile1005Met)	PLCH1 (I1005M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3214533	NM_014996.4(PLCH1):c.2840G>A (p.Gly947Asp)	PLCH1 (G955D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324682	NM_014996.4(PLCH1):c.2816C>A (p.Ser939Tyr)	PLCH1 (S959Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606371	NM_014996.4(PLCH1):c.2701C>T (p.Arg901Trp)	PLCH1 (R909W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 788519	NM_014996.4(PLCH1):c.2620-461A>T	PLCH1, PLCH1-AS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2654249	NM_014996.4(PLCH1):c.2535G>C (p.Val845=)	PLCH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2289301	NM_014996.4(PLCH1):c.2479G>A (p.Asp827Asn)	PLCH1 (D815N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214532	NM_014996.4(PLCH1):c.2464C>T (p.Leu822Phe)	PLCH1 (L810F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214531	NM_014996.4(PLCH1):c.2374C>T (p.Arg792Cys)	PLCH1 (R792C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331398	NM_014996.4(PLCH1):c.2312T>C (p.Ile771Thr)	PLCH1 (I759T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1687099	NM_014996.4(PLCH1):c.2101C>T (p.Arg701Ter)	PLCH1 (R689* +1 more)	Single nucleotide variant (nonsense)	Holoprosencephaly 14	GPathogenic
Select item 2543591	NM_014996.4(PLCH1):c.2051A>C (p.Tyr684Ser)	PLCH1 (Y672S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409752	NM_014996.4(PLCH1):c.1981C>A (p.Gln661Lys)	PLCH1 (Q649K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558914	NM_014996.4(PLCH1):c.1900A>G (p.Thr634Ala)	PLCH1 (T622A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472997	NM_014996.4(PLCH1):c.1751A>G (p.Glu584Gly)	PLCH1 (E584G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214529	NM_014996.4(PLCH1):c.1727A>G (p.Lys576Arg)	PLCH1 (K576R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536436	NM_014996.4(PLCH1):c.1720C>T (p.Arg574Trp)	PLCH1 (R574W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 767940	NM_014996.4(PLCH1):c.1705-5G>A	PLCH1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2654250	NM_014996.4(PLCH1):c.1681A>C (p.Met561Leu)	PLCH1 (M549L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3214528	NM_014996.4(PLCH1):c.1673G>A (p.Arg558Gln)	PLCH1 (R558Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214527	NM_014996.4(PLCH1):c.1662A>C (p.Lys554Asn)	PLCH1 (K542N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399981	NM_014996.4(PLCH1):c.1654G>A (p.Gly552Arg)	PLCH1 (G540R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239306	NM_014996.4(PLCH1):c.1633A>T (p.Ser545Cys)	PLCH1 (S533C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410361	NM_014996.4(PLCH1):c.1601C>T (p.Thr534Met)	PLCH1 (T522M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356567	NM_014996.4(PLCH1):c.1583G>A (p.Arg528Gln)	PLCH1 (R516Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214526	NM_014996.4(PLCH1):c.1553A>G (p.Asp518Gly)	PLCH1 (D506G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286717	NM_014996.4(PLCH1):c.1495G>A (p.Val499Met)	PLCH1 (V487M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214524	NM_014996.4(PLCH1):c.1463T>C (p.Leu488Pro)	PLCH1 (L476P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214522	NM_014996.4(PLCH1):c.1222T>C (p.Cys408Arg)	PLCH1 (C408R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596915	NM_014996.4(PLCH1):c.1115G>C (p.Gly372Ala)	PLCH1 (G372A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474731	NM_014996.4(PLCH1):c.1087C>G (p.Pro363Ala)	PLCH1 (P363A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605563	NM_014996.4(PLCH1):c.1037G>C (p.Arg346Pro)	PLCH1 (R334P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515903	NM_014996.4(PLCH1):c.1036C>T (p.Arg346Trp)	PLCH1 (R334W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254283	NM_014996.4(PLCH1):c.995G>C (p.Gly332Ala)	PLCH1 (G320A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590900	NM_014996.4(PLCH1):c.964A>G (p.Ile322Val)	PLCH1 (I310V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272997	NM_014996.4(PLCH1):c.943C>G (p.Gln315Glu)	PLCH1 (Q303E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349481	NM_014996.4(PLCH1):c.940G>T (p.Asp314Tyr)	PLCH1 (D302Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214548	NM_014996.4(PLCH1):c.881T>C (p.Met294Thr)	PLCH1 (M294T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455517	NM_014996.4(PLCH1):c.788C>T (p.Thr263Met)	PLCH1 (T263M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327047	NM_014996.4(PLCH1):c.577A>G (p.Arg193Gly)	PLCH1 (R181G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206830	NM_014996.4(PLCH1):c.575G>A (p.Arg192Gln)	PLCH1 (R180Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335959	NM_014996.4(PLCH1):c.540T>A (p.His180Gln)	PLCH1 (H180Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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