PDPK1[gene] - ClinVar

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Items: 67

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58594	GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3	ABAT, ABCA3 +822 more	Copy number gain	See cases	GPathogenic
Select item 58595	GRCh38/hg38 16p13.3(chr16:29941-2560460)x3	ABCA3, AMDHD2 +356 more	Copy number gain	See cases	GPathogenic
Select item 150284	GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3	EEF2KMT, ELOB +917 more	Copy number gain	See cases	GPathogenic
Select item 147509	GRCh38/hg38 16p13.3(chr16:46766-4247185)x3	LOC125146383, LOC125146384 +556 more	Copy number gain	See cases	GPathogenic
Select item 144298	GRCh38/hg38 16p13.3-13.13(chr16:46766-11525516)x3	ABAT, ABCA3 +843 more	Copy number gain	See cases	GPathogenic
Select item 58597	GRCh38/hg38 16p13.3(chr16:46766-3214623)x3	ARHGDIG, ATP6V0C +482 more	Copy number gain	See cases	GPathogenic
Select item 155643	GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3	ABAT, ABCA3 +926 more	Copy number gain	See cases	GPathogenic
Select item 154001	GRCh38/hg38 16p13.3(chr16:2304443-2676863)x1	ABCA3, AMDHD2 +49 more	Copy number loss	See cases	GUncertain significance
Select item 154402	GRCh38/hg38 16p13.3(chr16:2365461-2764284)x1	AMDHD2, ATP6V0C +58 more	Copy number loss	See cases	GUncertain significance
Select item 152712	GRCh38/hg38 16p13.3(chr16:2406643-2782411)x1	AMDHD2, ATP6V0C +59 more	Copy number loss	See cases	GLikely pathogenic
Select item 59427	GRCh38/hg38 16p13.3(chr16:2494804-3246579)x1	LOC130058276, LOC130058277 +148 more	Copy number loss	See cases	GPathogenic
Select item 2335871	NM_002613.5(PDPK1):c.19C>A (p.Gln7Lys)	LOC130058255, PDPK1 (Q7K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610354	NM_002613.5(PDPK1):c.133A>G (p.Ser45Gly)	PDPK1 (S45G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387620	NM_002613.5(PDPK1):c.151A>G (p.Met51Val)	PDPK1 (M51V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305595	NM_002613.5(PDPK1):c.176G>A (p.Arg59Gln)	PDPK1 (R59Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378583	NM_002613.5(PDPK1):c.187G>A (p.Gly63Ser)	PDPK1 (G63S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618291	NM_002613.5(PDPK1):c.194T>A (p.Leu65Gln)	PDPK1 (L65Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393043	NM_002613.5(PDPK1):c.215C>T (p.Pro72Leu)	PDPK1 (P72L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211046	NM_002613.5(PDPK1):c.217C>A (p.Gln73Lys)	PDPK1 (Q73K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242615	NM_002613.5(PDPK1):c.427G>A (p.Val143Ile)	PDPK1 (V143I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2393773	NM_002613.5(PDPK1):c.773C>T (p.Ser258Phe)	PDPK1 (S131F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 154703	GRCh38/hg38 16p13.3(chr16:2586110-2804741)x1	ELOB, ERVK13-1 +22 more	Copy number loss	See cases	GUncertain significance
Select item 2277407	NM_002613.5(PDPK1):c.1205C>T (p.Thr402Met)	PDPK1 (T275M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211043	NM_002613.5(PDPK1):c.1262C>T (p.Ser421Leu)	PDPK1 (S294L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211045	NM_002613.5(PDPK1):c.1279G>C (p.Asp427His)	PDPK1 (D300H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605901	NM_002613.5(PDPK1):c.1403G>A (p.Gly468Asp)	PDPK1 (G341D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2226009	NM_002613.5(PDPK1):c.1495C>A (p.Pro499Thr)	PDPK1 (P372T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3033227	NM_002613.5(PDPK1):c.1593C>T (p.Asn531=)	PDPK1	Single nucleotide variant (3 prime UTR variant +1 more)	PDPK1-related disorder	GLikely benign
Select item 2397100	NM_002613.5(PDPK1):c.1637G>A (p.Arg546Gln)	PDPK1 (R419Q +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3046933	NM_002613.5(PDPK1):c.1653G>A (p.Pro551=)	PDPK1	Single nucleotide variant (3 prime UTR variant +1 more)	PDPK1-related disorder	GLikely benign
Select item 3046732	NM_002613.5(PDPK1):c.1656C>T (p.Asp552=)	PDPK1	Single nucleotide variant (3 prime UTR variant +1 more)	PDPK1-related disorder	GLikely benign
Select item 3243524	NC_000016.9:g.(?_2550259)_(3154076_?)del	AMDHD2, ATP6V0C +26 more	Deletion	Caused by mutation in the TBC1 domain family, member 24 +2 more	GPathogenic
Select item 3243222	NC_000016.9:g.(?_339420)_(3767509_?)dup	ABCA3, AMDHD2 +142 more	Duplication	Idiopathic generalized epilepsy +2 more	GUncertain significance
Select item 2685540	GRCh37/hg19 16p13.3(chr16:2480793-2590012)x1	AMDHD2, ATP6V0C +6 more	Copy number loss	not provided	GLikely pathogenic
Select item 2684776	GRCh37/hg19 16p13.3(chr16:2643569-3716657)x3	BICDL2, C16orf90 +42 more	Copy number gain	not provided	GUncertain significance
Select item 2684774	GRCh37/hg19 16p13.3(chr16:2606711-3935836)x3	BICDL2, C16orf90 +43 more	Copy number gain	not provided	GPathogenic
Select item 2684772	GRCh37/hg19 16p13.3(chr16:1054247-2592737)x3	ABCA3, AMDHD2 +66 more	Copy number gain	not provided	GLikely pathogenic
Select item 2498683	GRCh37/hg19 16p13.3(chr16:2564105-2647768)x1	AMDHD2, ATP6V0C +2 more	Copy number loss	not provided	GUncertain significance
Select item 2425037	NC_000016.9:g.(?_256302)_(4852572_?)dup	TIGD7, TMEM204 +170 more	Duplication	Idiopathic generalized epilepsy +3 more	GUncertain significance
Select item 1808520	GRCh37/hg19 16p13.3(chr16:1942430-2653144)x3	ABCA3, AMDHD2 +35 more	Copy number gain	not provided	GUncertain significance
Select item 1710928	GRCh37/hg19 16p13.3(chr16:111043-6627459)x3	ABCA3, ADCY9 +187 more	Copy number gain	See cases	GPathogenic
Select item 1526483	GRCh37/hg19 16p13.3(chr16:1847662-2653144)	ABCA3, AMDHD2 +38 more	Copy number gain	not specified	GUncertain significance
Select item 1340286	GRCh37/hg19 16p13.3(chr16:1830141-2592737)x3	ABCA3, AMDHD2 +41 more	Copy number gain	not provided	GUncertain significance
Select item 1328466	GRCh37/hg19 16p13.3(chr16:2635096-2830625)x1	ELOB, KCTD5 +3 more	Copy number loss	not provided	GUncertain significance
Select item 1180508	GRCh37/hg19 16p13.3(chr16:84485-5251013)x3	JPT2, KCTD5 +188 more	Copy number gain	not provided	GPathogenic
Select item 980573	GRCh37/hg19 16p13.3(chr16:85880-5249457)x3	ABCA3, ADCY9 +188 more	Copy number gain	not provided	GPathogenic
Select item 815770	GRCh37/hg19 16p13.3(chr16:2651354-4614965)x3	ADCY9, BICDL2 +56 more	Copy number gain	not provided	GPathogenic
Select item 685170	GRCh37/hg19 16p13.3(chr16:2070917-2592737)x3	ABCA3, AMDHD2 +22 more	Copy number gain	not provided	GUncertain significance
Select item 625723	GRCh37/hg19 16p13.3(chr16:109978-4316797)	ABCA3, ADCY9 +159 more	Copy number gain	Chromosome 16p13.3 duplication syndrome	GPathogenic
Select item 564258	GRCh37/hg19 16p13.3(chr16:2651354-4460114)x3	ADCY9, BICDL2 +51 more	Copy number gain	not provided	GPathogenic
Select item 564256	GRCh37/hg19 16p13.3(chr16:1505184-4415346)x3	ABCA3, ADCY9 +103 more	Copy number gain	not provided	GPathogenic
Select item 564254	GRCh37/hg19 16p13.3-13.13(chr16:85880-11209288)x3	ABAT, ABCA3 +206 more	Copy number gain	not provided	GPathogenic
Select item 564253	GRCh37/hg19 16p13.3(chr16:85880-3216551)x3	ABCA3, AMDHD2 +139 more	Copy number gain	not provided	GPathogenic
Select item 443477	GRCh37/hg19 16p13.3-13.2(chr16:85880-9883129)x3	ABAT, ABCA3 +198 more	Copy number gain	See cases	GPathogenic
Select item 443183	GRCh37/hg19 16p13.3-12.2(chr16:85880-22442007)x3	ABAT, ABCA3 +295 more	Copy number gain	See cases	GPathogenic
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	CCL22, CCNF +811 more	Copy number gain	See cases	GPathogenic
Select item 442872	GRCh37/hg19 16p13.3-12.3(chr16:85880-19806921)x3	PRSS27, PRSS33 +263 more	Copy number gain	See cases	GPathogenic
Select item 442735	GRCh37/hg19 16p13.3(chr16:2606710-3382546)x3	BICDL2, CLDN6 +30 more	Copy number gain	See cases	GUncertain significance
Select item 441740	GRCh37/hg19 16p13.3(chr16:643377-3125125)x3	ABCA3, AMDHD2 +111 more	Copy number gain	See cases	GUncertain significance
Select item 395719	GRCh37/hg19 16p13.3-13.2(chr16:78801-9169448)	CLDN6, CLDN9 +196 more	Copy number gain	See cases	GPathogenic
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	ABCC6, BCL7C +811 more	Copy number gain	See cases	GPathogenic
Select item 394840	GRCh37/hg19 16p13.3(chr16:97133-5122974)x3	ABCA3, ADCY9 +187 more	Copy number gain	See cases	GPathogenic
Select item 375693	maternal UPD(16p)	ALG1, BICDL2 +388 more	Complex	Hemimegalencephaly	GPathogenic
Select item 221511	GRCh37/hg19 16p13.3-12.3(chr16:1274615-19073133)x3	AMDHD2, ANKS3 +202 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 221391	GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3	ABAT, ABCA3 +384 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 219021	GRCh37/hg19 16p13.3-11.2(chr16:102839-28327676)x3	ABAT, ABCA3 +330 more	Copy number gain	See cases	GPathogenic

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Items: 67