PHLDB2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	PDIA5, PHLDB2 +1344 more	Copy number gain	See cases	GPathogenic
Select item 145994	GRCh38/hg38 3q11.1-13.31(chr3:93819623-116887056)x1	ABHD10, ABI3BP +431 more	Copy number loss	See cases	GPathogenic
Select item 57803	GRCh38/hg38 3q11.1-21.1(chr3:93886671-123216683)x1	TRAT1, TRMT10C +638 more	Copy number loss	See cases	GPathogenic
Select item 2579175	GRCh38/hg38 3q11.1-21.2(chr3:93979547-124774010)x1	CCDC54-AS1, LOC123002328 +682 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
Select item 149128	GRCh38/hg38 3q11.2-13.31(chr3:97795369-115663349)x1	ABHD10, ABI3BP +398 more	Copy number loss	See cases	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 57980	GRCh38/hg38 3q13.11-13.31(chr3:104621220-116093884)x3	LOC132088858, LOC132088860 +248 more	Copy number gain	See cases	GPathogenic
Select item 57804	GRCh38/hg38 3q13.13-13.31(chr3:108242572-116169331)x1	ABHD10, ATG3 +186 more	Copy number loss	See cases	GPathogenic
Select item 2466924	NC_000003.12:g.111732624G>A	PHLDB2, PLCXD2	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 2243878	NM_001134437.2(PHLDB2):c.28G>A (p.Val10Met)	PHLDB2 (V10M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212308	NM_001134438.2(PHLDB2):c.55G>C (p.Glu19Gln)	PHLDB2 (E46Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515320	NM_001134438.2(PHLDB2):c.110G>A (p.Ser37Asn)	PHLDB2 (S37N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516142	NM_001134438.2(PHLDB2):c.112C>G (p.Leu38Val)	PHLDB2 (L38V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516143	NM_001134438.2(PHLDB2):c.131C>T (p.Ser44Phe)	PHLDB2 (S44F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 775892	NM_001134438.2(PHLDB2):c.137G>T (p.Ser46Ile)	PHLDB2 (S46I +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3306222	NM_001134438.2(PHLDB2):c.170G>C (p.Gly57Ala)	PHLDB2 (G57A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212298	NM_001134438.2(PHLDB2):c.293G>A (p.Gly98Glu)	PHLDB2 (G98E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212303	NM_001134438.2(PHLDB2):c.328C>G (p.Pro110Ala)	PHLDB2 (P137A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309562	NM_001134438.2(PHLDB2):c.328C>T (p.Pro110Ser)	PHLDB2 (P137S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602527	NM_001134438.2(PHLDB2):c.376G>A (p.Ala126Thr)	PHLDB2 (A153T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595470	NM_001134438.2(PHLDB2):c.394A>G (p.Thr132Ala)	PHLDB2 (T159A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265565	NM_001134438.2(PHLDB2):c.401G>A (p.Arg134Gln)	PHLDB2 (R161Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212307	NM_001134438.2(PHLDB2):c.406A>G (p.Ser136Gly)	PHLDB2 (S136G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345942	NM_001134438.2(PHLDB2):c.431A>T (p.Glu144Val)	PHLDB2 (E144V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274462	NM_001134438.2(PHLDB2):c.474T>A (p.His158Gln)	PHLDB2 (H185Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335564	NM_001134438.2(PHLDB2):c.535A>G (p.Met179Val)	PHLDB2 (M179V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 791945	NM_001134438.2(PHLDB2):c.572C>T (p.Pro191Leu)	PHLDB2 (P191L +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2287129	NM_001134438.2(PHLDB2):c.616A>C (p.Lys206Gln)	PHLDB2 (K206Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355040	NM_001134438.2(PHLDB2):c.633G>A (p.Met211Ile)	PHLDB2 (M238I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396271	NM_001134438.2(PHLDB2):c.652G>T (p.Ala218Ser)	PHLDB2 (A218S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396272	NM_001134438.2(PHLDB2):c.653C>T (p.Ala218Val)	PHLDB2 (A218V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257604	NM_001134438.2(PHLDB2):c.674G>C (p.Arg225Thr)	PHLDB2 (R252T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492452	NM_001134438.2(PHLDB2):c.683A>G (p.Glu228Gly)	PHLDB2 (E255G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392962	NM_001134438.2(PHLDB2):c.866A>G (p.Lys289Arg)	PHLDB2 (K289R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238875	NM_001134438.2(PHLDB2):c.899A>G (p.Asn300Ser)	PHLDB2 (N327S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306225	NM_001134438.2(PHLDB2):c.994C>T (p.Pro332Ser)	PHLDB2 (P359S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237287	NM_001134438.2(PHLDB2):c.1003C>T (p.Pro335Ser)	PHLDB2 (P335S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238147	NM_001134438.2(PHLDB2):c.1036A>G (p.Thr346Ala)	PHLDB2 (T373A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410429	NM_001134438.2(PHLDB2):c.1039T>A (p.Ser347Thr)	PHLDB2 (S347T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306226	NM_001134438.2(PHLDB2):c.1076A>C (p.Tyr359Ser)	PHLDB2 (Y359S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212292	NM_001134438.2(PHLDB2):c.1121A>G (p.Asp374Gly)	PHLDB2 (D374G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467923	NM_001134438.2(PHLDB2):c.1133C>T (p.Ala378Val)	PHLDB2 (A405V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276044	NM_001134438.2(PHLDB2):c.1234C>G (p.Arg412Gly)	PHLDB2 (R412G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608973	NM_001134438.2(PHLDB2):c.1288C>T (p.Arg430Trp)	PHLDB2 (R457W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509008	NM_001134438.2(PHLDB2):c.1291C>T (p.Arg431Trp)	PHLDB2 (R458W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250828	NM_001134438.2(PHLDB2):c.1345C>T (p.Arg449Cys)	PHLDB2 (R449C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212293	NM_001134438.2(PHLDB2):c.1397G>A (p.Arg466His)	PHLDB2 (R466H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306227	NM_001134438.2(PHLDB2):c.1414A>G (p.Thr472Ala)	PHLDB2 (T472A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229953	NM_001134438.2(PHLDB2):c.1439A>G (p.Asn480Ser)	PHLDB2 (N480S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352652	NM_001134438.2(PHLDB2):c.1592G>A (p.Ser531Asn)	PHLDB2 (S558N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212294	NM_001134438.2(PHLDB2):c.1651C>T (p.Pro551Ser)	PHLDB2 (P551S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495267	NM_001134438.2(PHLDB2):c.1655C>T (p.Pro552Leu)	PHLDB2 (P552L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 775893	NM_001134438.2(PHLDB2):c.1668C>T (p.Ser556=)	PHLDB2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2263917	NM_001134438.2(PHLDB2):c.1682C>T (p.Ala561Val)	PHLDB2 (A561V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357880	NM_001134438.2(PHLDB2):c.1694C>G (p.Ser565Cys)	PHLDB2 (S565C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306221	NM_001134438.2(PHLDB2):c.1717A>G (p.Lys573Glu)	PHLDB2 (K600E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212295	NM_001134438.2(PHLDB2):c.1747A>G (p.Arg583Gly)	LOC126806771, PHLDB2 (R610G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207263	NM_001134438.2(PHLDB2):c.1781G>T (p.Arg594Leu)	LOC126806771, PHLDB2 (R594L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507789	NM_001134438.2(PHLDB2):c.1901A>T (p.Lys634Ile)	PHLDB2 (K661I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206761	NM_001134438.2(PHLDB2):c.1922T>C (p.Met641Thr)	PHLDB2 (M668T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212296	NM_001134438.2(PHLDB2):c.1954C>T (p.Arg652Trp)	PHLDB2 (R679W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306224	NM_001134438.2(PHLDB2):c.1991A>C (p.Glu664Ala)	PHLDB2 (E691A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271076	NM_001134438.2(PHLDB2):c.2206C>G (p.Leu736Val)	PHLDB2 (L693V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212297	NM_001134438.2(PHLDB2):c.2245C>T (p.Arg749Cys)	PHLDB2 (R706C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344237	NM_001134438.2(PHLDB2):c.2423A>G (p.Glu808Gly)	PHLDB2 (E765G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 783399	NM_001134438.2(PHLDB2):c.2474A>G (p.Asn825Ser)	PHLDB2 (N809S +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3306223	NM_001134438.2(PHLDB2):c.2534C>T (p.Thr845Met)	PHLDB2 (T829M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468234	NM_001134438.2(PHLDB2):c.2549C>G (p.Ser850Cys)	PHLDB2 (S807C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265642	NM_001134438.2(PHLDB2):c.2576C>G (p.Ala859Gly)	PHLDB2 (A843G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211652	NM_001134438.2(PHLDB2):c.2609C>T (p.Ala870Val)	PHLDB2 (A854V +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 783400	NM_001134438.2(PHLDB2):c.2610G>A (p.Ala870=)	PHLDB2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2257966	NM_001134438.2(PHLDB2):c.2693C>T (p.Thr898Ile)	PHLDB2 (T898I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615201	NM_001134438.2(PHLDB2):c.2803T>C (p.Cys935Arg)	PHLDB2 (C892R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 717721	NM_001134438.2(PHLDB2):c.2818C>T (p.Pro940Ser)	PHLDB2 (P924S +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2596853	NM_001134438.2(PHLDB2):c.2819C>T (p.Pro940Leu)	PHLDB2 (P924L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530137	NM_001134438.2(PHLDB2):c.2833G>T (p.Ala945Ser)	PHLDB2 (A945S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 779873	NM_001134438.2(PHLDB2):c.2857C>T (p.Arg953Trp)	PHLDB2 (R953W +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3306228	NM_001134438.2(PHLDB2):c.2858G>A (p.Arg953Gln)	PHLDB2 (R937Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 715968	NM_001134438.2(PHLDB2):c.2872+4C>T	PHLDB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2463893	NM_001134438.2(PHLDB2):c.2879A>G (p.Asn960Ser)	PHLDB2 (N917S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306229	NM_001134438.2(PHLDB2):c.2947A>C (p.Asn983His)	PHLDB2 (N940H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212299	NM_001134438.2(PHLDB2):c.3082A>G (p.Ser1028Gly)	PHLDB2 (S1012G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212300	NM_001134438.2(PHLDB2):c.3151C>T (p.Arg1051Trp)	PHLDB2 (R1051W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212301	NM_001134438.2(PHLDB2):c.3152G>A (p.Arg1051Gln)	PHLDB2 (R1008Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316821	NM_001134438.2(PHLDB2):c.3154C>A (p.Leu1052Met)	PHLDB2 (L1009M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346826	NM_001134438.2(PHLDB2):c.3160G>A (p.Glu1054Lys)	PHLDB2 (E1038K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338662	NM_001134438.2(PHLDB2):c.3172C>T (p.Arg1058Trp)	PHLDB2 (R1042W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210587	NM_001134438.2(PHLDB2):c.3331C>T (p.Arg1111Cys)	PHLDB2 (R1111C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210994	NM_001134438.2(PHLDB2):c.3332G>A (p.Arg1111His)	PHLDB2 (R1095H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212304	NM_001134438.2(PHLDB2):c.3335A>C (p.Tyr1112Ser)	PHLDB2 (Y1112S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459442	NM_001134438.2(PHLDB2):c.3346C>T (p.Arg1116Trp)	PHLDB2 (R1100W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212305	NM_001134438.2(PHLDB2):c.3404C>T (p.Thr1135Ile)	PHLDB2 (T1092I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349535	NM_001134438.2(PHLDB2):c.3593A>G (p.Tyr1198Cys)	PHLDB2 (Y1182C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212306	NM_001134438.2(PHLDB2):c.3745A>C (p.Thr1249Pro)	PHLDB2 (T1206P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492451	NM_001134438.2(PHLDB2):c.3746C>T (p.Thr1249Ile)	PHLDB2 (T1233I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685090	GRCh37/hg19 3q13.13-13.31(chr3:110398276-113879363)x1	ABHD10, ATG3 +31 more	Copy number loss	not provided	GUncertain significance
Select item 2498335	GRCh37/hg19 3q13.13-13.31(chr3:110966195-115843176)x1	ABHD10, ATG3 +34 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
Select item 1807773	GRCh37/hg19 3q13.12-13.31(chr3:107059705-115005256)x1	ABHD10, ATG3 +49 more	Copy number loss	not provided	GPathogenic
Select item 1703653	GRCh37/hg19 3q13.12-13.31(chr3:106598767-115704696)	ABHD10, ATG3 +51 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
Select item 814468	GRCh37/hg19 3q12.3-13.2(chr3:101812245-112174485)x1	ABHD10, ALCAM +29 more	Copy number loss	not provided	GPathogenic

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