ClinVar for Gene (Select 90075) - ClinVar

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Links from Gene

Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2649710	NM_194325.3(ZNF30):c.723T>C (p.Phe241=)	ZNF30	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 2623678	NM_194325.3(ZNF30):c.637A>G (p.Ile213Val)	ZNF30 (I214V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2424426	NC_000019.9:g.(?_33167170)_(36643309_?)dup	FXYD5, FXYD7 +83 more	Duplication	Hereditary spastic paraplegia 75	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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	ACP7, ACTMAP +434 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)	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	LILRA4, LILRA5 +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
Select item 153499	GRCh38/hg38 19q12-13.12(chr19:31367353-35417098)x1	FXYD7, GARRE1 +193 more	Copy number loss	See cases	GPathogenic
Select item 147631	GRCh38/hg38 19q12-13.13(chr19:29671324-37902990)x1	LOC130064234, LOC130064235 +439 more	Copy number loss	See cases	GPathogenic
Select item 146619	GRCh38/hg38 19q12-13.13(chr19:29661858-38114723)x1	LOC130064186, LOC130064187 +459 more	Copy number loss	See cases	GPathogenic
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	LOC130064390, LOC130064391 +2135 more	Copy number gain	See cases	GPathogenic
Select item 57042	GRCh38/hg38 19p13.11-q13.11(chr19:17176767-34924150)x3	ABHD8, ANKLE1 +625 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 41