ClinVar for Gene (Select 653583) - ClinVar

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Links from Gene

Items: 71

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3212322	NM_198850.4(PHLDB3):c.992C>T (p.Thr331Ile)	PHLDB3 (T331I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212321	NM_198850.4(PHLDB3):c.940G>C (p.Ala314Pro)	PHLDB3 (A314P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212320	NM_198850.4(PHLDB3):c.613G>T (p.Asp205Tyr)	PHLDB3 (D205Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212318	NM_198850.4(PHLDB3):c.17G>A (p.Ser6Asn)	PHLDB3 (S6N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212317	NM_198850.4(PHLDB3):c.1753G>A (p.Glu585Lys)	PHLDB3 (E585K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212316	NM_198850.4(PHLDB3):c.1427G>A (p.Arg476Gln)	PHLDB3 (R476Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212315	NM_198850.4(PHLDB3):c.1345G>A (p.Gly449Arg)	PHLDB3 (G449R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212314	NM_198850.4(PHLDB3):c.1258G>A (p.Glu420Lys)	PHLDB3 (E420K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212313	NM_198850.4(PHLDB3):c.1220C>A (p.Ser407Tyr)	PHLDB3 (S407Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212312	NM_198850.4(PHLDB3):c.1198G>A (p.Glu400Lys)	PHLDB3 (E400K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212311	NM_198850.4(PHLDB3):c.1186C>T (p.Arg396Trp)	PHLDB3 (R396W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212310	NM_198850.4(PHLDB3):c.1178G>T (p.Ser393Ile)	PHLDB3 (S393I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612395	NM_198850.4(PHLDB3):c.1696T>A (p.Tyr566Asn)	PHLDB3 (Y566N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607313	NM_198850.4(PHLDB3):c.371G>T (p.Arg124Leu)	PHLDB3 (R124L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598403	NM_198850.4(PHLDB3):c.905G>A (p.Arg302Gln)	PHLDB3 (R302Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597470	NM_198850.4(PHLDB3):c.1454G>T (p.Gly485Val)	PHLDB3 (G485V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596114	NM_198850.4(PHLDB3):c.592C>T (p.Arg198Cys)	PHLDB3 (R198C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554415	NM_198850.4(PHLDB3):c.1781C>A (p.Ala594Asp)	PHLDB3 (A594D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529805	NM_198850.4(PHLDB3):c.217G>A (p.Glu73Lys)	PHLDB3 (E73K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523459	NM_198850.4(PHLDB3):c.1330C>T (p.Arg444Cys)	PHLDB3 (R444C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508776	NM_198850.4(PHLDB3):c.1400C>T (p.Ala467Val)	PHLDB3 (A467V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471374	NM_198850.4(PHLDB3):c.1853C>T (p.Pro618Leu)	PHLDB3 (P618L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459099	NM_198850.4(PHLDB3):c.1222C>T (p.Pro408Ser)	PHLDB3 (P408S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454846	NM_198850.4(PHLDB3):c.1194G>C (p.Arg398Ser)	PHLDB3 (R398S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454413	NM_198850.4(PHLDB3):c.732G>C (p.Glu244Asp)	PHLDB3 (E244D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390720	NM_198850.4(PHLDB3):c.736C>T (p.Arg246Trp)	PHLDB3 (R246W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359937	NM_198850.4(PHLDB3):c.1170G>C (p.Arg390Ser)	PHLDB3 (R390S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358187	NM_198850.4(PHLDB3):c.1465C>T (p.Pro489Ser)	PHLDB3 (P489S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356377	NM_198850.4(PHLDB3):c.1715C>A (p.Thr572Asn)	PHLDB3 (T572N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356363	NM_198850.4(PHLDB3):c.544C>T (p.Arg182Trp)	PHLDB3 (R182W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354032	NM_198850.4(PHLDB3):c.560G>A (p.Arg187Gln)	PHLDB3 (R187Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347415	NM_198850.4(PHLDB3):c.593G>A (p.Arg198His)	PHLDB3 (R198H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326182	NM_198850.4(PHLDB3):c.1490C>G (p.Pro497Arg)	PHLDB3 (P497R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323593	NM_198850.4(PHLDB3):c.50C>T (p.Pro17Leu)	PHLDB3 (P17L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303461	NM_198850.4(PHLDB3):c.476G>A (p.Arg159Gln)	PHLDB3 (R159Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297403	NM_198850.4(PHLDB3):c.1490C>T (p.Pro497Leu)	PHLDB3 (P497L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288286	NM_198850.4(PHLDB3):c.545G>A (p.Arg182Gln)	PHLDB3 (R182Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283251	NM_198850.4(PHLDB3):c.819G>T (p.Gln273His)	PHLDB3 (Q273H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264327	NM_198850.4(PHLDB3):c.1577C>A (p.Pro526Gln)	PHLDB3 (P526Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255094	NM_198850.4(PHLDB3):c.88G>C (p.Glu30Gln)	PHLDB3 (E30Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240115	NM_198850.4(PHLDB3):c.253C>G (p.Pro85Ala)	PHLDB3 (P85A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2224123	NM_198850.4(PHLDB3):c.844C>T (p.Arg282Trp)	PHLDB3 (R282W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221269	NM_198850.4(PHLDB3):c.1624A>G (p.Met542Val)	PHLDB3 (M542V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220773	NM_198850.4(PHLDB3):c.1393G>A (p.Ala465Thr)	PHLDB3 (A465T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211243	NM_198850.4(PHLDB3):c.1270C>A (p.Leu424Ile)	PHLDB3 (L424I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208319	NM_198850.4(PHLDB3):c.1194G>T (p.Arg398Ser)	PHLDB3 (R398S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206940	NM_198850.4(PHLDB3):c.1226G>A (p.Arg409Gln)	PHLDB3 (R409Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808065	GRCh37/hg19 19q13.2-13.31(chr19:43084067-44096910)x3	CD177, CEACAM8 +19 more	Copy number gain	not provided	GUncertain significance
Select item 1526666	GRCh37/hg19 19q13.2-13.31(chr19:43082847-44100076)	CD177, CEACAM8 +19 more	Copy number gain	not specified	GUncertain significance
Select item 980765	GRCh37/hg19 19q13.31(chr19:43834305-44004721)x1	CD177, LYPD3 +3 more	Copy number loss	not provided	GUncertain significance
Select item 798325	NM_198850.4(PHLDB3):c.1774C>T (p.Arg592Cys)	PHLDB3 (R592C)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 791658	NM_198850.4(PHLDB3):c.1491A>C (p.Pro497=)	PHLDB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 758436	NM_198850.4(PHLDB3):c.1486-8C>A	PHLDB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 733869	NM_198850.4(PHLDB3):c.1253C>A (p.Ser418Tyr)	PHLDB3 (S418Y)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 721160	NM_198850.4(PHLDB3):c.1140C>G (p.Ser380Arg)	PHLDB3 (S380R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 718291	NM_198850.4(PHLDB3):c.1035+5G>A	PHLDB3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 710860	NM_198850.4(PHLDB3):c.1011T>C (p.Ser337=)	PHLDB3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 710485	NM_198850.4(PHLDB3):c.307G>A (p.Gly103Arg)	PHLDB3 (G103R)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 687817	GRCh37/hg19 19q13.31(chr19:43818072-44100076)x3	CD177, ETHE1 +8 more	Copy number gain	not provided	GUncertain significance
Select item 686955	GRCh37/hg19 19q13.31(chr19:44004424-44080746)x3	ETHE1, PHLDB3 +2 more	Copy number gain	not provided	GUncertain significance
Select item 685142	GRCh37/hg19 19q13.31(chr19:43803157-44105375)x3	CD177, ETHE1 +9 more	Copy number gain	not provided	GUncertain significance
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ACP7, ACTMAP +434 more	Copy number gain	not provided	GPathogenic
Select item 564583	GRCh37/hg19 19q13.31(chr19:43846269-44055858)x4	LYPD3, XRCC1 +6 more	Copy number gain	not provided	GUncertain significance
Select item 545227	Single allele	LOC130064626, LOC130064627 +215 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	LILRA4, LILRA5 +1364 more	Copy number gain	See cases	GPathogenic
Select item 253540	GRCh37/hg19 19q13.2-13.32(chr19:43013365-47241534)x1	ERCC2, PPP5C +121 more	Copy number loss	See cases	GPathogenic
Select item 145905	GRCh38/hg38 19q13.31(chr19:43338231-43570437)x3	CD177, ETHE1 +14 more	Copy number gain	See cases	GLikely benign
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	LOC130064390, LOC130064391 +2135 more	Copy number gain	See cases	GPathogenic
Select item 60277	GRCh38/hg38 19q13.31(chr19:43338231-43853163)x3	CADM4, CD177 +55 more	Copy number gain	See cases	GUncertain significance
Select item 60276	GRCh38/hg38 19q13.31(chr19:43303334-43576458)x3	CD177, ETHE1 +18 more	Copy number gain	See cases	GUncertain significance

ClinVar

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Links from Gene

Items: 71