90075[Gene ID] - ClinVar

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

Search results

Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 57042	GRCh38/hg38 19p13.11-q13.11(chr19:17176767-34924150)x3	LOC130064154, LOC130064155 +625 more	Copy number gain	See cases	GPathogenic
Select item 146619	GRCh38/hg38 19q12-13.13(chr19:29661858-38114723)x1	ALKBH6, ANKRD27 +459 more	Copy number loss	See cases	GPathogenic
Select item 147631	GRCh38/hg38 19q12-13.13(chr19:29671324-37902990)x1	ALKBH6, ANKRD27 +439 more	Copy number loss	See cases	GPathogenic
Select item 153499	GRCh38/hg38 19q12-13.12(chr19:31367353-35417098)x1	ANKRD27, CD22 +193 more	Copy number loss	See cases	GPathogenic
Select item 3195016	NM_194325.3(ZNF30):c.34G>A (p.Gly12Arg)	ZNF30 (G12R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2649709	NM_194325.3(ZNF30):c.35G>A (p.Gly12Glu)	ZNF30 (G12E)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3195019	NM_194325.3(ZNF30):c.82T>C (p.Trp28Arg)	ZNF30 (W28R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3335415	NM_194325.3(ZNF30):c.94G>T (p.Asp32Tyr)	ZNF30 (D32Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3195009	NM_194325.3(ZNF30):c.138C>A (p.Asn46Lys)	ZNF30 (N46K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3195013	NM_194325.3(ZNF30):c.236A>T (p.Asp79Val)	ZNF30 (D80V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2310658	NM_194325.3(ZNF30):c.252C>G (p.Cys84Trp)	ZNF30 (C84W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2348999	NM_194325.3(ZNF30):c.274G>A (p.Asp92Asn)	ZNF30 (D92N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3195014	NM_194325.3(ZNF30):c.278C>A (p.Thr93Lys)	ZNF30 (T93K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3195015	NM_194325.3(ZNF30):c.323T>C (p.Phe108Ser)	ZNF30 (F108S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2384945	NM_194325.3(ZNF30):c.358C>T (p.Arg120Cys)	ZNF30 (R120C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3335414	NM_194325.3(ZNF30):c.419G>T (p.Arg140Ile)	ZNF30 (R141I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2258676	NM_194325.3(ZNF30):c.493A>T (p.Ile165Leu)	ZNF30 (I165L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2258679	NM_194325.3(ZNF30):c.494T>G (p.Ile165Arg)	ZNF30 (I165R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2623678	NM_194325.3(ZNF30):c.637A>G (p.Ile213Val)	ZNF30 (I214V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3195017	NM_194325.3(ZNF30):c.703G>A (p.Gly235Arg)	ZNF30 (G235R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2649710	NM_194325.3(ZNF30):c.723T>C (p.Phe241=)	ZNF30	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3195018	NM_194325.3(ZNF30):c.745C>T (p.Arg249Trp)	ZNF30 (R250W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2518371	NM_194325.3(ZNF30):c.812C>T (p.Thr271Ile)	ZNF30 (T271I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2388420	NM_194325.3(ZNF30):c.865G>A (p.Glu289Lys)	ZNF30 (E290K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2399252	NM_194325.3(ZNF30):c.923G>T (p.Arg308Ile)	ZNF30 (R308I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2617857	NM_194325.3(ZNF30):c.961T>C (p.Cys321Arg)	ZNF30 (C321R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2350469	NM_194325.3(ZNF30):c.1037G>A (p.Cys346Tyr)	ZNF30 (C347Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2485388	NM_194325.3(ZNF30):c.1079A>G (p.His360Arg)	ZNF30 (H360R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2531798	NM_194325.3(ZNF30):c.1109A>C (p.Lys370Thr)	ZNF30 (K371T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2523755	NM_194325.3(ZNF30):c.1252C>T (p.His418Tyr)	ZNF30 (H418Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3335411	NM_194325.3(ZNF30):c.1318C>T (p.Arg440Cys)	ZNF30 (R441C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2611804	NM_194325.3(ZNF30):c.1337A>G (p.His446Arg)	ZNF30 (H446R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2262595	NM_194325.3(ZNF30):c.1378G>A (p.Glu460Lys)	ZNF30 (E460K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3195010	NM_194325.3(ZNF30):c.1423C>T (p.Arg475Trp)	ZNF30 (R476W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3195011	NM_194325.3(ZNF30):c.1558G>C (p.Ala520Pro)	ZNF30 (A520P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3335412	NM_194325.3(ZNF30):c.1657G>A (p.Gly553Arg)	ZNF30 (G553R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2280028	NM_194325.3(ZNF30):c.1684C>G (p.His562Asp)	ZNF30 (H562D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3195012	NM_194325.3(ZNF30):c.1688C>A (p.Thr563Asn)	ZNF30 (T563N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2304183	NM_194325.3(ZNF30):c.1720G>A (p.Gly574Arg)	ZNF30 (G574R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2310339	NM_194325.3(ZNF30):c.1763G>A (p.Arg588Gln)	ZNF30 (R588Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2454331	NM_194325.3(ZNF30):c.1823G>C (p.Ser608Thr)	ZNF30 (S609T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3242311	GRCh37/hg19 19q13.11-13.12(chr19:35223021-36895699)x1	ALKBH6, APLP1 +63 more	Copy number loss	not provided	GPathogenic
Select item 3062386	GRCh37/hg19 19q11-13.2(chr19:28271146-41508851)x3	SLC7A9, SNRPA +215 more	Copy number gain	not specified	GPathogenic
Select item 2671623	Single allele	ALKBH6, APLP1 +72 more	Deletion	not provided	GPathogenic
Select item 2424426	NC_000019.9:g.(?_33167170)_(36643309_?)dup	ALKBH6, APLP1 +83 more	Duplication	Hereditary spastic paraplegia 75	GUncertain significance
Select item 1330177	GRCh37/hg19 19p13.11-q13.2(chr19:19546923-41313229)x3	ACP7, ACTMAP +255 more	Copy number gain	Specific learning disability	GPathogenic
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ZNF607, ZNF780A +432 more	Copy number gain	not provided	GPathogenic
Select item 625761	GRCh37/hg19 19q13.11-13.12(chr19:35043556-36316644)	ARHGAP33, ATP4A +44 more	Copy number loss	not provided	GPathogenic
Select item 625760	GRCh37/hg19 19q13.11-13.12(chr19:35111811-37744992)	ALKBH6, APLP1 +79 more	Copy number loss	Generalized epilepsy with febrile seizures plus, type 1	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 394109	GRCh37/hg19 19q12-13.12(chr19:30735448-36120396)x3	ANKRD27, ATP4A +58 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

Search results

Items: 53