ClinVar for Gene (Select 84058) - ClinVar

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

Links from Gene

Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3332864	NM_032118.4(WDR54):c.414G>C (p.Trp138Cys)	WDR54 (W138C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332863	NM_032118.4(WDR54):c.763A>C (p.Ile255Leu)	WDR54 (I255L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190116	NM_032118.4(WDR54):c.85C>T (p.Arg29Cys)	LOC129934121, WDR54 (R29C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3190115	NM_032118.4(WDR54):c.515C>T (p.Thr172Ile)	WDR54 (T120I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190113	NM_032118.4(WDR54):c.433T>C (p.Phe145Leu)	WDR54 (F145L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190112	NM_032118.4(WDR54):c.421C>T (p.Arg141Trp)	WDR54 (R156W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190111	NM_032118.4(WDR54):c.38C>T (p.Ser13Leu)	WDR54 (S13L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3190109	NM_032118.4(WDR54):c.202A>C (p.Ser68Arg)	LOC129934121, WDR54 (S68R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3190108	NM_032118.4(WDR54):c.123C>A (p.Ser41Arg)	LOC129934121, WDR54 (S41R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062659	GRCh37/hg19 2p13.3-12(chr2:71076472-76368354)x1	ACTG2, ALMS1 +60 more	Copy number loss	not specified	GLikely pathogenic
Select item 2618826	NM_032118.4(WDR54):c.758G>A (p.Arg253Gln)	WDR54 (R253Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617088	NM_032118.4(WDR54):c.22A>T (p.Ile8Phe)	WDR54 (I23F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2612202	NM_032118.4(WDR54):c.634G>C (p.Gly212Arg)	WDR54 (G227R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588812	NM_032118.4(WDR54):c.191G>T (p.Gly64Val)	LOC129934121, WDR54 (G64V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2552773	NM_032118.4(WDR54):c.608C>T (p.Thr203Ile)	WDR54 (T203I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535830	NM_032118.4(WDR54):c.32G>C (p.Arg11Pro)	WDR54 (R11P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2532369	NM_032118.4(WDR54):c.422G>A (p.Arg141Gln)	WDR54 (R156Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529920	NM_032118.4(WDR54):c.718A>G (p.Thr240Ala)	WDR54 (T188A +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2525659	NM_032118.4(WDR54):c.299A>G (p.Asn100Ser)	WDR54 (N100S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525339	NM_032118.4(WDR54):c.763A>G (p.Ile255Val)	WDR54 (I203V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2498869	GRCh37/hg19 2p13.1-12(chr2:73716761-75347894)x1	CCDC142, DCTN1 +35 more	Copy number loss	not provided	GUncertain significance
Select item 2486971	NM_032118.4(WDR54):c.904G>A (p.Asp302Asn)	WDR54 (D302N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2485069	NM_032118.4(WDR54):c.476A>G (p.Glu159Gly)	WDR54 (E159G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2427025	NC_000002.11:g.(?_69240632)_(74779761_?)dup	AAK1, ACTG2 +72 more	Duplication	not provided	GUncertain significance
Select item 2425561	NC_000002.11:g.(?_72359356)_(74779761_?)del	ACTG2, ALMS1 +42 more	Deletion	not provided	GPathogenic
Select item 2424629	NC_000002.11:g.(?_71004499)_(74779761_?)del	ACTG2, ALMS1 +55 more	Deletion	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency	GPathogenic
Select item 2399023	NM_032118.4(WDR54):c.590G>A (p.Arg197Gln)	WDR54 (R212Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383112	NM_032118.4(WDR54):c.985C>T (p.Arg329Trp)	WDR54 (R344W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2377458	NM_032118.4(WDR54):c.10T>C (p.Trp4Arg)	WDR54 (W19R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2340058	NM_032118.4(WDR54):c.868A>G (p.Ile290Val)	WDR54 (I238V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320986	NM_032118.4(WDR54):c.620G>A (p.Arg207His)	WDR54 (R207H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314286	NM_032118.4(WDR54):c.523G>A (p.Ala175Thr)	WDR54 (A190T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285613	NM_032118.4(WDR54):c.269C>T (p.Ser90Leu)	WDR54 (S105L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277655	NM_032118.4(WDR54):c.492G>T (p.Gln164His)	WDR54 (Q164H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260173	NM_032118.4(WDR54):c.539G>T (p.Cys180Phe)	WDR54 (C128F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255263	NM_032118.4(WDR54):c.490C>G (p.Gln164Glu)	WDR54 (Q112E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237471	NM_032118.4(WDR54):c.860G>C (p.Ser287Thr)	WDR54 (S302T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 932702	NM_032118.4(WDR54):c.519G>A (p.Glu173=)	WDR54	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 562678	GRCh37/hg19 2p13.1-11.2(chr2:74527522-89125488)x1	ATOH8, AUP1 +78 more	Copy number loss	not provided	GPathogenic
Select item 560065	Single allele	AAK1, ACTG2 +127 more	Duplication	not provided	GPathogenic
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442633	GRCh37/hg19 2p13.1-11.2(chr2:74365484-89129064)x1	SFTPB, SH2D6 +81 more	Copy number loss	See cases	GPathogenic
Select item 155389	GRCh38/hg38 2p13.1-12(chr2:74375779-75517520)x1	AUP1, C2orf81 +86 more	Copy number loss	See cases	GLikely pathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 146814	GRCh38/hg38 2p16.1-11.2(chr2:58279519-83586962)x3	AAK1, ACTG2 +768 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: 49