26920[HGNC] - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154560	GRCh38/hg38 19p13.3(chr19:259395-6795611)x3	ABCA7, ABHD17A +903 more	Copy number gain	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 59085	GRCh38/hg38 19p13.3(chr19:4934885-6501642)x3	LOC130063249, LOC130063250 +124 more	Copy number gain	See cases	GPathogenic
Select item 2600666	NM_020175.3(DUS3L):c.1925C>T (p.Pro642Leu)	DUS3L (P400L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364953	NM_020175.3(DUS3L):c.1876A>C (p.Ile626Leu)	DUS3L (I384L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343290	NM_020175.3(DUS3L):c.1838C>T (p.Thr613Met)	DUS3L (T371M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222583	NM_020175.3(DUS3L):c.1822C>T (p.Arg608Cys)	DUS3L (R366C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523812	NM_020175.3(DUS3L):c.1810T>C (p.Tyr604His)	DUS3L (Y604H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086223	NM_020175.3(DUS3L):c.1778G>A (p.Arg593Gln)	DUS3L (R351Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086222	NM_020175.3(DUS3L):c.1762G>A (p.Val588Met)	DUS3L (V588M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086221	NM_020175.3(DUS3L):c.1748G>A (p.Cys583Tyr)	DUS3L (C341Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613218	NM_020175.3(DUS3L):c.1729G>C (p.Glu577Gln)	DUS3L (E335Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371516	NM_020175.3(DUS3L):c.1715G>A (p.Arg572Gln)	DUS3L (R572Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465184	NM_020175.3(DUS3L):c.1664A>C (p.Asn555Thr)	DUS3L (N555T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556347	NM_020175.3(DUS3L):c.1621A>G (p.Ile541Val)	DUS3L (I541V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268879	NM_020175.3(DUS3L):c.1523G>A (p.Arg508His)	DUS3L (R266H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601702	NM_020175.3(DUS3L):c.1522C>T (p.Arg508Cys)	DUS3L (R266C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361714	NM_020175.3(DUS3L):c.1478C>T (p.Pro493Leu)	DUS3L (P493L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511206	NM_020175.3(DUS3L):c.1477C>G (p.Pro493Ala)	DUS3L (P251A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480706	NM_020175.3(DUS3L):c.1462G>A (p.Ala488Thr)	DUS3L (A488T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519902	NM_020175.3(DUS3L):c.1454G>A (p.Cys485Tyr)	DUS3L (C243Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519962	NM_020175.3(DUS3L):c.1406G>A (p.Arg469Gln)	DUS3L (R227Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086220	NM_020175.3(DUS3L):c.1357G>A (p.Glu453Lys)	DUS3L (E211K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086219	NM_020175.3(DUS3L):c.1256A>G (p.Gln419Arg)	DUS3L (Q419R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461857	NM_020175.3(DUS3L):c.1183G>A (p.Gly395Ser)	DUS3L (G395S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469893	NM_020175.3(DUS3L):c.1090G>A (p.Val364Ile)	DUS3L (V122I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401195	NM_020175.3(DUS3L):c.986C>T (p.Ala329Val)	DUS3L (A329V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086226	NM_020175.3(DUS3L):c.985G>T (p.Ala329Ser)	DUS3L (A329S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226422	NM_020175.3(DUS3L):c.982G>A (p.Gly328Arg)	DUS3L (G328R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467951	NM_020175.3(DUS3L):c.977G>A (p.Arg326His)	DUS3L (R326H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222127	NM_020175.3(DUS3L):c.911G>A (p.Arg304His)	DUS3L (R62H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086225	NM_020175.3(DUS3L):c.899G>A (p.Arg300Gln)	DUS3L (R300Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2471333	NM_020175.3(DUS3L):c.799G>A (p.Ala267Thr)	DUS3L (A267T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2373806	NM_020175.3(DUS3L):c.767G>A (p.Arg256Lys)	DUS3L (R256K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2252343	NM_020175.3(DUS3L):c.700C>T (p.Arg234Trp)	DUS3L (R234W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2222470	NM_020175.3(DUS3L):c.698G>A (p.Arg233His)	DUS3L (R233H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2480576	NM_020175.3(DUS3L):c.568A>C (p.Asn190His)	DUS3L (N190H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2396804	NM_020175.3(DUS3L):c.520G>A (p.Gly174Ser)	DUS3L (G174S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2249232	NM_020175.3(DUS3L):c.435C>G (p.His145Gln)	DUS3L (H145Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2320321	NM_020175.3(DUS3L):c.397G>A (p.Ala133Thr)	DUS3L (A133T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2459613	NM_020175.3(DUS3L):c.350A>T (p.Asn117Ile)	DUS3L (N117I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2556933	NM_020175.3(DUS3L):c.287A>C (p.Gln96Pro)	DUS3L (Q96P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3086224	NM_020175.3(DUS3L):c.280G>C (p.Gly94Arg)	DUS3L (G94R)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2225896	NM_020175.3(DUS3L):c.229C>G (p.Leu77Val)	DUS3L (L77V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2357144	NM_020175.3(DUS3L):c.155A>C (p.Lys52Thr)	DUS3L (K52T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242628	NC_000019.9:g.(?_5691310)_(8008536_?)dup	ACER1, ACSBG2 +65 more	Duplication	not provided	GUncertain significance
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 1682753	NC_000019.9:g.(?_5678562)_(5903719_?)dup	FUT6, HSD11B1L +10 more	Duplication	not provided	GUncertain significance
Select item 1411282	NC_000019.9:g.(?_5678562)_(5897028_?)dup	CATSPERD, DUS3L +10 more	Duplication	not provided	GUncertain significance
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)	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

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Items: 52