13091[HGNC] - ClinVar

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Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 149858	GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3	LOC129994992, LOC129994993 +1157 more	Copy number gain	See cases	GPathogenic
Select item 57483	GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3	ABLIM3, ACSL6 +1218 more	Copy number gain	See cases	GPathogenic
Select item 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	ADAM19, ADAMTS2 +1166 more	Copy number gain	See cases	GPathogenic
Select item 151623	GRCh38/hg38 5q33.1(chr5:150806692-150930666)x1	IRGM, LOC123575596 +1 more	Copy number loss	See cases	GLikely benign
Select item 2266351	NM_052860.4(ZNF300):c.1657G>A (p.Glu553Lys)	IRGM, ZNF300 (E517K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2298270	NM_052860.4(ZNF300):c.1622G>A (p.Arg541Gln)	IRGM, ZNF300 (R541Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2288010	NM_052860.4(ZNF300):c.1575A>C (p.Glu525Asp)	IRGM, ZNF300 (E541D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2249259	NM_052860.4(ZNF300):c.1547C>T (p.Thr516Ile)	IRGM, ZNF300 (T532I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3195023	NM_052860.4(ZNF300):c.1486A>C (p.Ser496Arg)	IRGM, ZNF300 (S496R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3195022	NM_052860.4(ZNF300):c.1427G>A (p.Arg476His)	IRGM, ZNF300 (R476H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3195021	NM_052860.4(ZNF300):c.1394A>T (p.Tyr465Phe)	IRGM, ZNF300 (Y465F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2483333	NM_052860.4(ZNF300):c.1367A>T (p.Gln456Leu)	IRGM, ZNF300 (Q472L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2252769	NM_052860.4(ZNF300):c.1273A>G (p.Ile425Val)	IRGM, ZNF300 (I441V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2480568	NM_052860.4(ZNF300):c.1160G>A (p.Gly387Glu)	IRGM, ZNF300 (G387E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2266349	NM_052860.4(ZNF300):c.1075G>A (p.Gly359Arg)	IRGM, ZNF300 (G375R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 776080	NM_052860.4(ZNF300):c.1074C>T (p.Cys358=)	IRGM, ZNF300	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2555217	NM_052860.4(ZNF300):c.1058A>G (p.Tyr353Cys)	IRGM, ZNF300 (Y317C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2306179	NM_052860.4(ZNF300):c.947A>G (p.Gln316Arg)	IRGM, ZNF300 (Q316R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2527916	NM_052860.4(ZNF300):c.925A>C (p.Lys309Gln)	IRGM, ZNF300 (K273Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2475166	NM_052860.4(ZNF300):c.899G>A (p.Gly300Asp)	IRGM, ZNF300 (G316D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3195030	NM_052860.4(ZNF300):c.838A>G (p.Lys280Glu)	IRGM, ZNF300 (K280E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2569802	NM_052860.4(ZNF300):c.829G>A (p.Ala277Thr)	IRGM, ZNF300 (A293T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3195029	NM_052860.4(ZNF300):c.769A>C (p.Ile257Leu)	IRGM, ZNF300 (I221L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3195028	NM_052860.4(ZNF300):c.760C>A (p.Gln254Lys)	IRGM, ZNF300 (Q218K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2311871	NM_052860.4(ZNF300):c.712G>A (p.Val238Ile)	IRGM, ZNF300 (V202I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 787296	NM_052860.4(ZNF300):c.690T>C (p.Asn230=)	IRGM, ZNF300	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 771385	NM_052860.4(ZNF300):c.649G>A (p.Gly217Arg)	IRGM, ZNF300 (G181R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2549063	NM_052860.4(ZNF300):c.640C>G (p.Gln214Glu)	IRGM, ZNF300 (Q214E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2238643	NM_052860.4(ZNF300):c.602C>T (p.Pro201Leu)	IRGM, ZNF300 (P165L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2250565	NM_052860.4(ZNF300):c.519G>C (p.Glu173Asp)	IRGM, ZNF300 (E189D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 771386	NM_052860.4(ZNF300):c.513T>G (p.Phe171Leu)	IRGM, ZNF300 (F171L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3195027	NM_052860.4(ZNF300):c.352G>A (p.Asp118Asn)	IRGM, ZNF300 (D134N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3195026	NM_052860.4(ZNF300):c.349A>G (p.Arg117Gly)	IRGM, ZNF300 (R133G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2469444	NM_052860.4(ZNF300):c.299G>A (p.Cys100Tyr)	IRGM, ZNF300 (C100Y +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2266220	NM_052860.4(ZNF300):c.76G>C (p.Asp26His)	IRGM, ZNF300 (D26H +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3195025	NM_052860.4(ZNF300):c.-21G>A	ZNF300 (G10S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1703528	GRCh37/hg19 5q32-35.3(chr5:149010383-180719789)	ADAM19, ADAMTS2 +222 more	Copy number gain	Hunter-McAlpine craniosynostosis	GPathogenic
Select item 686680	GRCh37/hg19 5q33.1(chr5:150155711-150316261)x1	IRGM, SMIM3 +1 more	Copy number loss	not provided	GUncertain significance
Select item 624478	GRCh37/hg19 5q33.1(chr5:150186254-150356223)x1	IRGM, ZNF300	Copy number loss	not provided	GLikely benign
Select item 457359	NC_000005.9:g.(?_86400000)_(154000000_?)del	ARB2A, ARHGAP26 +385 more	Deletion	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	HRH2, HSD17B4 +520 more	Copy number gain	See cases	GPathogenic

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Items: 46