14058[HGNC] - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58787	GRCh38/hg38 19p13.3(chr19:233565-4699472)x3	LOC130063041, LOC130063042 +687 more	Copy number gain	See cases	GPathogenic
Select item 154560	GRCh38/hg38 19p13.3(chr19:259395-6795611)x3	LOC130062978, LOC130062979 +903 more	Copy number gain	See cases	GPathogenic
Select item 145414	GRCh38/hg38 19p13.3(chr19:1549144-4288720)x1	ABHD17A, ADAT3 +387 more	Copy number loss	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 59082	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	LOC130063254, LOC130063255 +810 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 60070	GRCh38/hg38 19p13.3(chr19:2926238-4051635)x1	APBA3, ATCAY +121 more	Copy number loss	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 60233	GRCh38/hg38 19p13.3(chr19:3080621-3730716)x3	CACTIN, CACTIN-AS1 +79 more	Copy number gain	See cases	GUncertain significance
Select item 145812	GRCh38/hg38 19p13.3(chr19:3223852-3306533)x3	CELF5, LOC105372244 +4 more	Copy number gain	See cases	GLikely benign
Select item 3141952	NM_021938.4(CELF5):c.35A>G (p.Gln12Arg)	CELF5 (Q12R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232120	NM_021938.4(CELF5):c.47T>C (p.Leu16Pro)	CELF5 (L16P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313382	NM_021938.4(CELF5):c.91C>T (p.Pro31Ser)	CELF5 (P31S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254240	NM_021938.4(CELF5):c.98G>C (p.Gly33Ala)	CELF5 (G33A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521208	NM_021938.4(CELF5):c.349C>T (p.Arg117Trp)	CELF5 (R117W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 373409	NM_021938.4(CELF5):c.661_664dup (p.Arg222fs)	CELF5 (R222fs)	Duplication (frameshift variant +1 more)	not specified	GUncertain significance
Select item 3141955	NM_021938.4(CELF5):c.925G>A (p.Ala309Thr)	CELF5 (A195T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2362207	NM_021938.4(CELF5):c.940G>A (p.Val314Met)	CELF5 (V200M +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2212851	NM_021938.4(CELF5):c.992A>G (p.His331Arg)	CELF5 (H217R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2332988	NM_021938.4(CELF5):c.1084G>A (p.Gly362Arg)	CELF5 (G337R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 373408	NM_021938.4(CELF5):c.1091A>C (p.Gln364Pro)	CELF5 (Q339P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2261869	NM_021938.4(CELF5):c.1105A>C (p.Met369Leu)	CELF5 (M344L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3141950	NM_021938.4(CELF5):c.1118C>T (p.Ala373Val)	CELF5 (A373V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3141951	NM_021938.4(CELF5):c.1451C>G (p.Pro484Arg)	CELF5 (P484R)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3248515	NC_000019.9:g.(?_2430909)_(4171966_?)del	APBA3, ATCAY +42 more	Deletion	RASopathy	GUncertain significance
Select item 2684882	GRCh37/hg19 19p13.3-13.2(chr19:260912-7246777)x3	MBD3L3, MBD3L4 +202 more	Copy number gain	not provided	GPathogenic
Select item 2445494	NC_000019.9:g.(?_1206913)_(3771740_?)dup	ABHD17A, ADAMTSL5 +80 more	Duplication	not provided	GUncertain significance
Select item 2425228	NC_000019.9:g.(?_589946)_(5696788_?)dup	TLE5, TLE6 +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 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	ADAMTSL5, PLEKHJ1 +106 more	Copy number gain	not provided	GPathogenic
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	AP3D1, SPPL2B +64 more	Duplication	Neurodevelopmental disorder	GUncertain significance
Select item 635915	Single allele	ATCAY, CACTIN +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 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

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Items: 41