ClinVar for Gene (Select 79968) - ClinVar

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

Links from Gene

Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3190256	NM_024908.4(WDR76):c.788A>G (p.Asn263Ser)	WDR76 (N263S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3190255	NM_024908.4(WDR76):c.652A>G (p.Met218Val)	WDR76 (M154V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190254	NM_024908.4(WDR76):c.568C>T (p.Arg190Cys)	WDR76 (R190C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190253	NM_024908.4(WDR76):c.261G>T (p.Lys87Asn)	WDR76 (K87N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190252	NM_024908.4(WDR76):c.1868A>G (p.Glu623Gly)	WDR76 (E559G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190251	NM_024908.4(WDR76):c.1863G>T (p.Met621Ile)	WDR76 (M557I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190249	NM_024908.4(WDR76):c.1637G>A (p.Arg546Gln)	WDR76 (R546Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190248	NM_024908.4(WDR76):c.1576A>G (p.Ser526Gly)	WDR76 (S462G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190247	NM_024908.4(WDR76):c.1371C>G (p.His457Gln)	WDR76 (H393Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190246	NM_024908.4(WDR76):c.1348A>G (p.Lys450Glu)	WDR76 (K386E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190244	NM_024908.4(WDR76):c.1331C>A (p.Thr444Asn)	WDR76 (T380N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190243	NM_024908.4(WDR76):c.1192G>A (p.Val398Met)	WDR76 (V334M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063379	GRCh37/hg19 15q11.2-21.2(chr15:22770421-50347130)x3	ACTC1, ADAL +200 more	Copy number gain	not specified	GPathogenic
Select item 3024593	GRCh37/hg19 15q15.3(chr15:43988438-44216507)x3	CKMT1A, ELL3 +7 more	Copy number gain	not provided	GUncertain significance
Select item 2671612	Single allele	ADAL, AFG2B +103 more	Deletion	not provided	GPathogenic
Select item 2621700	NM_024908.4(WDR76):c.1115A>G (p.Asn372Ser)	WDR76 (N372S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599988	NM_024908.4(WDR76):c.112G>T (p.Ala38Ser)	WDR76 (A38S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2592804	NM_024908.4(WDR76):c.1813C>T (p.Arg605Trp)	WDR76 (R605W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569030	NM_024908.4(WDR76):c.1043C>A (p.Pro348His)	WDR76 (P284H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545503	NM_024908.4(WDR76):c.509T>C (p.Ile170Thr)	WDR76 (I106T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529842	NM_024908.4(WDR76):c.800A>G (p.Lys267Arg)	WDR76 (K203R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521943	NM_024908.4(WDR76):c.1820T>G (p.Ile607Ser)	WDR76 (I543S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513342	NM_024908.4(WDR76):c.1718G>A (p.Arg573Gln)	WDR76 (R509Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482042	NM_024908.4(WDR76):c.802G>C (p.Gly268Arg)	WDR76 (G204R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458284	NM_024908.4(WDR76):c.1685G>C (p.Cys562Ser)	WDR76 (C498S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386635	NM_024908.4(WDR76):c.352A>G (p.Thr118Ala)	WDR76 (T118A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360391	NM_024908.4(WDR76):c.1783G>C (p.Val595Leu)	WDR76 (V531L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356455	NM_024908.4(WDR76):c.995T>C (p.Val332Ala)	WDR76 (V332A +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2349897	NM_024908.4(WDR76):c.154G>T (p.Ala52Ser)	WDR76 (A52S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2342509	NM_024908.4(WDR76):c.717A>T (p.Leu239Phe)	WDR76 (L239F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329369	NM_024908.4(WDR76):c.1835A>C (p.Asn612Thr)	WDR76 (N612T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298763	NM_024908.4(WDR76):c.946A>G (p.Ile316Val)	WDR76 (I252V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2280452	NM_024908.4(WDR76):c.1733A>G (p.His578Arg)	WDR76 (H578R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270433	NM_024908.4(WDR76):c.1774C>T (p.Leu592Phe)	WDR76 (L528F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269711	NM_024908.4(WDR76):c.1736A>C (p.Glu579Ala)	WDR76 (E515A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253999	NM_024908.4(WDR76):c.685T>A (p.Ser229Thr)	WDR76 (S165T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223097	NM_024908.4(WDR76):c.1600C>T (p.Leu534Phe)	WDR76 (L534F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1526447	GRCh37/hg19 15q15.2-21.2(chr15:42850434-49592633)	BLOC1S6, C15orf48 +61 more	Copy number loss	not specified	GPathogenic
Select item 1341068	GRCh37/hg19 15q15.2-15.3(chr15:43215243-44632384)x1	ADAL, CATSPER2 +24 more	Copy number loss	not provided	GUncertain significance
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	ARPIN-AP3S2, COMMD4 +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 815709	GRCh37/hg19 15q15.2-15.3(chr15:43420601-44198616)x3	TGM5, PDIA3 +22 more	Copy number gain	not provided	GUncertain significance
Select item 564197	GRCh37/hg19 15q15.3-21.3(chr15:43759773-53252240)x1	AP4E1, ARPP19 +76 more	Copy number loss	not provided	GPathogenic
Select item 560049	Single allele	AAGAB, ABHD17C +523 more	Duplication	not provided	GPathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 395389	GRCh37/hg19 15q15.1-21.2(chr15:41689327-52446981)x1	ADAL, AFG2B +107 more	Copy number loss	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	CSK, CSNK1G1 +566 more	Copy number gain	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	TRPM7, TSPAN3 +444 more	Copy number gain	See cases	GPathogenic
Select item 155042	GRCh38/hg38 15q15.3-21.1(chr15:43696563-44541320)x1	CKMT1A, CTDSPL2 +42 more	Copy number loss	See cases	GUncertain significance
Select item 148856	GRCh38/hg38 15q15.2-15.3(chr15:42566761-43847106)x1	ADAL, CATSPER2 +69 more	Copy number loss	See cases	GLikely pathogenic

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: 50