26923[HGNC] - ClinVar

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Items: 70

	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 3298818	NM_020170.4(NCLN):c.70G>A (p.Val24Ile)	LOC130063128, NCLN (V24I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533065	NM_020170.4(NCLN):c.82G>A (p.Ala28Thr)	LOC130063128, NCLN (A28T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369455	NM_020170.4(NCLN):c.109C>G (p.Leu37Val)	LOC130063128, NCLN (L37V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334823	NM_020170.4(NCLN):c.149G>T (p.Arg50Leu)	LOC130063128, NCLN (R50L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276615	NM_020170.4(NCLN):c.191G>A (p.Arg64Gln)	NCLN (R64Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298815	NM_020170.4(NCLN):c.244C>T (p.Arg82Cys)	NCLN (R82C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183348	NM_020170.4(NCLN):c.263G>A (p.Arg88Gln)	NCLN (R88Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183350	NM_020170.4(NCLN):c.341G>A (p.Arg114Lys)	NCLN (R114K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377440	NM_020170.4(NCLN):c.352G>A (p.Ala118Thr)	NCLN (A118T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239539	NM_020170.4(NCLN):c.362A>G (p.Gln121Arg)	NCLN (Q121R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183357	NM_020170.4(NCLN):c.367G>A (p.Val123Ile)	NCLN (V123I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 757650	NM_020170.4(NCLN):c.374G>A (p.Arg125Gln)	NCLN (R125Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3298817	NM_020170.4(NCLN):c.407C>T (p.Ala136Val)	NCLN (A136V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183359	NM_020170.4(NCLN):c.470A>G (p.Lys157Arg)	NCLN (K157R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 375276	NM_020170.4(NCLN):c.496C>T (p.Gln166Ter)	NCLN (Q166*)	Single nucleotide variant (nonsense)	Hirschsprung disease, susceptibility to, 1	GLikely pathogenic
Select item 2246723	NM_020170.4(NCLN):c.505G>A (p.Ala169Thr)	NCLN (A169T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405980	NM_020170.4(NCLN):c.545A>G (p.Asn182Ser)	NCLN (N182S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297999	NM_020170.4(NCLN):c.547G>A (p.Gly183Ser)	NCLN (G183S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529394	NM_020170.4(NCLN):c.599T>G (p.Leu200Arg)	NCLN (L200R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 770651	NM_020170.4(NCLN):c.615+9C>T	NCLN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2464891	NM_020170.4(NCLN):c.626C>T (p.Thr209Met)	NCLN (T209M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183372	NM_020170.4(NCLN):c.635G>A (p.Gly212Asp)	NCLN (G212D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535083	NM_020170.4(NCLN):c.712G>A (p.Ala238Thr)	NCLN (A238T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298816	NM_020170.4(NCLN):c.770G>A (p.Arg257Gln)	NCLN (R257Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553153	NM_020170.4(NCLN):c.788G>T (p.Arg263Leu)	NCLN (R263L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302999	NM_020170.4(NCLN):c.970G>A (p.Val324Met)	NCLN (V324M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261264	NM_020170.4(NCLN):c.970G>C (p.Val324Leu)	NCLN (V324L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205925	NM_020170.4(NCLN):c.1016G>A (p.Arg339Gln)	NCLN (R339Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517234	NM_020170.4(NCLN):c.1070T>G (p.Val357Gly)	NCLN (V357G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183293	NM_020170.4(NCLN):c.1078C>T (p.Arg360Trp)	NCLN (R360W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183300	NM_020170.4(NCLN):c.1180G>A (p.Gly394Ser)	NCLN (G394S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183303	NM_020170.4(NCLN):c.1184A>C (p.Gln395Pro)	NCLN (Q395P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490584	NM_020170.4(NCLN):c.1284C>A (p.Asn428Lys)	NCLN (N428K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404851	NM_020170.4(NCLN):c.1354C>A (p.Leu452Met)	NCLN (L451M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470558	NM_020170.4(NCLN):c.1361C>T (p.Ser454Leu)	NCLN (S453L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309441	NM_020170.4(NCLN):c.1433C>T (p.Thr478Met)	NCLN (T477M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216202	NM_020170.4(NCLN):c.1454G>A (p.Arg485His)	NCLN (R484H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403391	NM_020170.4(NCLN):c.1522G>A (p.Asp508Asn)	NCLN (D507N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618791	NM_020170.4(NCLN):c.1555G>A (p.Val519Ile)	NCLN (V519I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482284	NM_020170.4(NCLN):c.1562C>T (p.Pro521Leu)	NCLN (P520L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 768953	NM_020170.4(NCLN):c.1563G>A (p.Pro521=)	NCLN	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3183343	NM_020170.4(NCLN):c.1609G>A (p.Gly537Ser)	NCLN (G536S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183345	NM_020170.4(NCLN):c.1621G>A (p.Val541Met)	NCLN (V540M +1 more)	Single nucleotide variant (missense variant)	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	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 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 564605	GRCh37/hg19 19p13.3(chr19:260911-3200875)x3	ABCA7, ABHD17A +102 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: 70