ClinVar for Gene (Select 54663) - ClinVar

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Links from Gene

Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3190235	NM_001369450.1(WDR74):c.967G>C (p.Asp323His)	STX5-DT, WDR74 (D188H +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3190233	NM_001369450.1(WDR74):c.7G>A (p.Ala3Thr)	LOC130005871, WDR74 (A3T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3190232	NM_001369450.1(WDR74):c.710C>G (p.Pro237Arg)	WDR74 (P102R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3190231	NM_001369450.1(WDR74):c.623G>A (p.Arg208His)	WDR74 (R73H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3190230	NM_001369450.1(WDR74):c.589A>G (p.Lys197Glu)	WDR74 (K62E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 3063189	GRCh37/hg19 11p11.12-q13.1(chr11:50398499-63924462)x3	AHNAK, APLNR +225 more	Copy number gain	not specified	GLikely pathogenic
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	ACTN3, ACY3 +362 more	Copy number gain	not provided	GPathogenic
Select item 2618047	NM_001369450.1(WDR74):c.904C>T (p.Arg302Trp)	STX5-DT, WDR74 (R167W +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2600588	NM_001369450.1(WDR74):c.779G>A (p.Arg260His)	STX5-DT, WDR74 (R274H +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2560140	NM_001369450.1(WDR74):c.338A>G (p.His113Arg)	WDR74 (H113R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2549473	NM_001369450.1(WDR74):c.1084G>C (p.Gly362Arg)	STX5-DT, WDR74 (G227R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2546104	NM_001369450.1(WDR74):c.817C>T (p.Arg273Cys)	STX5-DT, WDR74 (R138C +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2528948	NM_001369450.1(WDR74):c.13G>A (p.Ala5Thr)	LOC130005871, WDR74 (A5T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2528757	NM_001369450.1(WDR74):c.541C>T (p.Arg181Trp)	WDR74 (R181W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2470942	NM_001369450.1(WDR74):c.205C>A (p.His69Asn)	WDR74 (H69N)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2465066	NM_001369450.1(WDR74):c.488C>T (p.Ser163Phe)	WDR74 (S163F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2460588	NM_001369450.1(WDR74):c.649C>T (p.Arg217Cys)	WDR74 (R231C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2425028	NC_000011.9:g.(?_58916346)_(64972349_?)dup	AHNAK, ARL2 +182 more	Duplication	Leukocyte adhesion deficiency 3	GUncertain significance
Select item 2395454	NM_001369450.1(WDR74):c.409C>T (p.Arg137Cys)	WDR74 (R137C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2386990	NM_001369450.1(WDR74):c.140C>T (p.Ala47Val)	LOC130005870, WDR74 (A47V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2325890	NM_001369450.1(WDR74):c.667A>G (p.Thr223Ala)	WDR74 (T237A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2316474	NM_001369450.1(WDR74):c.778C>T (p.Arg260Cys)	STX5-DT, WDR74 (R274C +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2313022	NM_001369450.1(WDR74):c.710C>A (p.Pro237Gln)	WDR74 (P102Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2312204	NM_001369450.1(WDR74):c.285G>C (p.Gln95His)	LOC130005869, WDR74 (Q95H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2300567	NM_001369450.1(WDR74):c.203A>C (p.Lys68Thr)	WDR74 (K68T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2291974	NM_001369450.1(WDR74):c.562G>T (p.Asp188Tyr)	WDR74 (D53Y +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2282650	NM_001369450.1(WDR74):c.845C>G (p.Pro282Arg)	STX5-DT, WDR74 (P147R +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2263763	NM_001369450.1(WDR74):c.493G>A (p.Glu165Lys)	WDR74 (E165K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2250986	NM_001369450.1(WDR74):c.520C>T (p.Arg174Trp)	WDR74 (R188W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2249568	NM_001369450.1(WDR74):c.769C>T (p.Arg257Trp)	WDR74 (R271W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2207546	NM_001369450.1(WDR74):c.907G>A (p.Gly303Ser)	STX5-DT, WDR74 (G303S +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	GRIA4, GRIK4 +956 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 997825	Single allele	ACER3, ACP2 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 790096	NM_001369450.1(WDR74):c.172A>G (p.Met58Val)	WDR74 (M58V)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 780999	NM_001369450.1(WDR74):c.21C>G (p.Arg7=)	LOC130005871, WDR74	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 780998	NM_001369450.1(WDR74):c.65-7C>T	LOC130005871, WDR74	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 780997	NM_001369450.1(WDR74):c.1097C>T (p.Pro366Leu)	STX5-DT, WDR74 (P366L +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 689150	GRCh37/hg19 11q12.3(chr11:62314663-62788240)x3	B3GAT3, BSCL2 +36 more	Copy number gain	not provided	GUncertain significance
Select item 685584	GRCh37/hg19 11q12.3(chr11:62487052-62788240)x3	CHRM1, HNRNPUL2 +21 more	Copy number gain	not provided	GUncertain significance
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	ACP2, CREBZF +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	GALNT18, MPZL3 +1289 more	Copy number gain	See cases	GPathogenic
Select item 395048	GRCh37/hg19 11q12.3(chr11:62601117-62619571)x3	SNHG1, WDR74	Copy number gain	See cases	Gconflicting data from submitters
Select item 394819	GRCh37/hg19 11q12.3(chr11:61840997-62987330)x1	AHNAK, ASRGL1 +47 more	Copy number loss	See cases	GLikely pathogenic
Select item 393925	GRCh37/hg19 11q12.3(chr11:62598650-62619571)x3	SNHG1, STX5 +1 more	Copy number gain	See cases	GLikely benign
Select item 149385	GRCh38/hg38 11q12.3(chr11:62249520-62946093)x3	AHNAK, ASRGL1 +110 more	Copy number gain	See cases	GPathogenic
Select item 145432	GRCh38/hg38 11q12.3(chr11:62562836-62840570)x3	B3GAT3, BSCL2 +70 more	Copy number gain	See cases	GUncertain significance
Select item 59755	GRCh38/hg38 11q12.3(chr11:62452571-62862781)x3	AHNAK, B3GAT3 +95 more	Copy number gain	See cases	GPathogenic
Select item 59754	GRCh38/hg38 11q12.3(chr11:62433886-63096003)x3	AHNAK, B3GAT3 +105 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 49