ClinVar for Gene (Select 5170) - ClinVar

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

Links from Gene

Items: 67

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3243524	NC_000016.9:g.(?_2550259)_(3154076_?)del	AMDHD2, ATP6V0C +26 more	Deletion	Autosomal dominant nonsyndromic hearing loss 65 +2 more	GPathogenic
Select item 3243222	NC_000016.9:g.(?_339420)_(3767509_?)dup	ABCA3, AMDHD2 +142 more	Duplication	Epilepsy +2 more	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 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 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 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 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 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 2618291	NM_002613.5(PDPK1):c.194T>A (p.Leu65Gln)	PDPK1 (L65Q)	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 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 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	CAPN15, CCDC154 +170 more	Duplication	Hyperaldosteronism, familial, type IV +3 more	GUncertain significance
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 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 2393043	NM_002613.5(PDPK1):c.215C>T (p.Pro72Leu)	PDPK1 (P72L)	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 2378583	NM_002613.5(PDPK1):c.187G>A (p.Gly63Ser)	PDPK1 (G63S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 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 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 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	ZC3H7A, ZCCHC14 +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	AARS1, ABAT +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	DPEP2, DPEP3 +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
Select item 155643	GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3	LOC130058149, LOC130058150 +925 more	Copy number gain	See cases	GPathogenic
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 154402	GRCh38/hg38 16p13.3(chr16:2365461-2764284)x1	AMDHD2, ATP6V0C +58 more	Copy number loss	See cases	GUncertain significance
Select item 154001	GRCh38/hg38 16p13.3(chr16:2304443-2676863)x1	ABCA3, AMDHD2 +49 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 150284	GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3	LOC130058535, LOC130058536 +916 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	LOC105371046, LOC105371050 +842 more	Copy number gain	See cases	GPathogenic
Select item 59427	GRCh38/hg38 16p13.3(chr16:2494804-3246579)x1	LOC130058276, LOC130058277 +148 more	Copy number loss	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 58595	GRCh38/hg38 16p13.3(chr16:29941-2560460)x3	ABCA3, AMDHD2 +356 more	Copy number gain	See cases	GPathogenic
Select item 58594	GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3	LOC112340388, LOC112441449 +821 more	Copy number gain	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

Links from Gene

Items: 67