ClinVar for Gene (Select 2769) - ClinVar

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

Links from Gene

Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2684882	GRCh37/hg19 19p13.3-13.2(chr19:260912-7246777)x3	UBXN6, UHRF1 +202 more	Copy number gain	not provided	GPathogenic
Select item 2603084	NM_002068.4(GNA15):c.550C>T (p.Arg184Cys)	GNA15, GNA15-DT (R184C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592785	NM_002068.4(GNA15):c.976G>T (p.Gly326Cys)	GNA15, LOC112543480 (G326C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591831	NM_002068.4(GNA15):c.848A>G (p.Glu283Gly)	GNA15 (E283G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538736	NM_002068.4(GNA15):c.749G>A (p.Arg250His)	GNA15 (R250H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537446	NM_002068.4(GNA15):c.496C>T (p.His166Tyr)	GNA15, GNA15-DT (H166Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530056	NM_002068.4(GNA15):c.604A>G (p.Thr202Ala)	GNA15, GNA15-DT (T202A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495240	NM_002068.4(GNA15):c.467T>A (p.Leu156Gln)	GNA15, GNA15-DT (L156Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492601	NM_002068.4(GNA15):c.278T>C (p.Met93Thr)	GNA15, GNA15-DT (M93T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2445494	NC_000019.9:g.(?_1206913)_(3771740_?)dup	TCF3, PLK5 +80 more	Duplication	not provided	GUncertain significance
Select item 2425228	NC_000019.9:g.(?_589946)_(5696788_?)dup	ABCA7, ABHD17A +151 more	Duplication	not provided	GUncertain significance
Select item 2423454	NC_000019.9:g.(?_589946)_(4818389_?)dup	ABCA7, ABHD17A +138 more	Duplication	not provided	GUncertain significance
Select item 2379424	NM_002068.4(GNA15):c.595G>A (p.Val199Met)	GNA15, GNA15-DT (V199M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365704	NM_002068.4(GNA15):c.544G>A (p.Val182Met)	GNA15, GNA15-DT (V182M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356918	NM_002068.4(GNA15):c.48G>C (p.Glu16Asp)	GNA15 (E16D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355656	NM_002068.4(GNA15):c.202G>A (p.Ala68Thr)	GNA15, GNA15-DT (A68T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2301843	NM_002068.4(GNA15):c.11C>T (p.Ser4Leu)	GNA15 (S4L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252777	NM_002068.4(GNA15):c.505C>T (p.Arg169Cys)	GNA15, GNA15-DT (R169C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216799	NM_002068.4(GNA15):c.23G>A (p.Arg8His)	GNA15 (R8H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 816518	GRCh37/hg19 19p13.3(chr19:260912-4384674)x3	ABCA7, ABHD17A +138 more	Copy number gain	See cases	GPathogenic
Select item 816059	GRCh37/hg19 19p13.3(chr19:260911-3501271)x3	ABCA7, ABHD17A +106 more	Copy number gain	not provided	GPathogenic
Select item 790433	NM_002068.4(GNA15):c.561G>A (p.Met187Ile)	GNA15, GNA15-DT (M187I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 788012	NM_002068.4(GNA15):c.813C>T (p.Ser271=)	GNA15	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 786961	NM_002068.4(GNA15):c.341G>A (p.Ser114Asn)	GNA15-DT, GNA15 (S114N)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 686934	GRCh37/hg19 19p13.3(chr19:3134686-3501127)x3	CELF5, DOHH +5 more	Copy number gain	not provided	GUncertain significance
Select item 686923	GRCh37/hg19 19p13.3(chr19:3132909-3907470)x3	APBA3, ATCAY +20 more	Copy number gain	not provided	GUncertain significance
Select item 686280	GRCh37/hg19 19p13.3(chr19:260911-4788357)x3	ABCA7, ABHD17A +147 more	Copy number gain	not provided	GPathogenic
Select item 635917	NC_000019.9:g.1406030_3597207dup	ABHD17A, ADAMTSL5 +64 more	Duplication	Neurodevelopmental disorder	GUncertain significance
Select item 635915	Single allele	SMIM24, SPPL2B +50 more	Deletion	Internal malformations	GUncertain significance
Select item 625734	GRCh37/hg19 19p13.3(chr19:3076808-4796782)	ANKRD24, APBA3 +48 more	Copy number loss	not provided	GPathogenic
Select item 564607	GRCh37/hg19 19p13.3-13.2(chr19:3120160-9732820)x3	ACER1, ACSBG2 +165 more	Copy number gain	not provided	GPathogenic
Select item 564605	GRCh37/hg19 19p13.3(chr19:260911-3200875)x3	ABCA7, ABHD17A +102 more	Copy number gain	not provided	GPathogenic
Select item 523266	GRCh37/hg19 19p13.3(chr19:259395-3152419)	GNA11, GNA15 +100 more	Copy number gain	Hypotonia +2 more	GLikely pathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	BICRA, BLOC1S3 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 155019	GRCh38/hg38 19p13.3(chr19:2884401-3451078)x3	CELF5, GNA11 +50 more	Copy number gain	See cases	GUncertain significance
Select item 154560	GRCh38/hg38 19p13.3(chr19:259395-6795611)x3	ABCA7, ABHD17A +903 more	Copy number gain	See cases	GPathogenic
Select item 150989	GRCh38/hg38 19p13.3(chr19:3020573-3482611)x3	CELF5, GNA11 +46 more	Copy number gain	See cases	GUncertain significance
Select item 148645	GRCh38/hg38 19p13.3(chr19:3080621-4912622)x3	ANKRD24, APBA3 +223 more	Copy number gain	See cases	GLikely pathogenic
Select item 145414	GRCh38/hg38 19p13.3(chr19:1549144-4288720)x1	ABHD17A, ADAT3 +387 more	Copy number loss	See cases	GPathogenic
Select item 60233	GRCh38/hg38 19p13.3(chr19:3080621-3730716)x3	CACTIN, CACTIN-AS1 +79 more	Copy number gain	See cases	GUncertain significance
Select item 60070	GRCh38/hg38 19p13.3(chr19:2926238-4051635)x1	APBA3, ATCAY +121 more	Copy number loss	See cases	GPathogenic
Select item 59082	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	LOC130063246, LOC130063247 +810 more	Copy number gain	See cases	GPathogenic
Select item 59081	GRCh38/hg38 19p13.3(chr19:1565575-4108128)x3	ABHD17A, ADAT3 +362 more	Copy number gain	See cases	GPathogenic
Select item 58787	GRCh38/hg38 19p13.3(chr19:233565-4699472)x3	LOC116276498, LOC121627842 +687 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: 48