24520[HGNC] - ClinVar

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Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153441	GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3	LOC126806103, LOC126806104 +1047 more	Copy number gain	See cases	GPathogenic
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	LOC129933311, LOC129933312 +1631 more	Copy number gain	See cases	GPathogenic
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	LINC01115, LINC01121 +1400 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 3092726	NM_015475.5(FAM98A):c.1498C>G (p.His500Asp)	FAM98A (H305D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622152	NM_015475.5(FAM98A):c.1481T>A (p.Phe494Tyr)	FAM98A (F494Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411923	NM_015475.5(FAM98A):c.1400G>A (p.Arg467His)	FAM98A (R467H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598723	NM_015475.5(FAM98A):c.1388G>A (p.Gly463Glu)	FAM98A (G268E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536357	NM_015475.5(FAM98A):c.1382G>A (p.Arg461His)	FAM98A (R266H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092724	NM_015475.5(FAM98A):c.1370G>A (p.Arg457His)	FAM98A (R457H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256643	NM_015475.5(FAM98A):c.1333G>A (p.Asp445Asn)	FAM98A (D250N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598533	NM_015475.5(FAM98A):c.1318G>A (p.Gly440Ser)	FAM98A (G245S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316240	NM_015475.5(FAM98A):c.1265G>A (p.Gly422Asp)	FAM98A (G422D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350456	NM_015475.5(FAM98A):c.1239C>A (p.His413Gln)	FAM98A (H218Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092723	NM_015475.5(FAM98A):c.1212C>A (p.Phe404Leu)	FAM98A (F209L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520929	NM_015475.5(FAM98A):c.1181A>G (p.Tyr394Cys)	FAM98A (Y394C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511236	NM_015475.5(FAM98A):c.961C>T (p.Pro321Ser)	FAM98A (P321S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369534	NM_015475.5(FAM98A):c.946C>G (p.Pro316Ala)	FAM98A (P121A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484640	NM_015475.5(FAM98A):c.929A>G (p.Asn310Ser)	FAM98A (N310S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092730	NM_015475.5(FAM98A):c.904G>C (p.Val302Leu)	FAM98A (V107L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484177	NM_015475.5(FAM98A):c.895A>C (p.Met299Leu)	FAM98A (M299L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092729	NM_015475.5(FAM98A):c.854C>G (p.Ser285Cys)	FAM98A (S90C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221158	NM_015475.5(FAM98A):c.851G>A (p.Gly284Asp)	FAM98A (G284D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260092	NM_015475.5(FAM98A):c.850G>A (p.Gly284Ser)	FAM98A (G89S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2650822	NM_015475.5(FAM98A):c.774C>T (p.Ser258=)	FAM98A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3277575	NM_015475.5(FAM98A):c.677T>G (p.Leu226Trp)	FAM98A (L31W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343127	NM_015475.5(FAM98A):c.643T>C (p.Tyr215His)	FAM98A (Y215H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321987	NM_015475.5(FAM98A):c.460G>A (p.Gly154Arg)	FAM98A (G154R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2244008	NM_015475.5(FAM98A):c.376T>A (p.Cys126Ser)	FAM98A (C126S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3277572	NM_015475.5(FAM98A):c.329T>G (p.Leu110Arg)	FAM98A (L110R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3092728	NM_015475.5(FAM98A):c.326T>A (p.Leu109His)	FAM98A (L109H)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3092727	NM_015475.5(FAM98A):c.266C>T (p.Pro89Leu)	FAM98A (P89L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3277573	NM_015475.5(FAM98A):c.209G>A (p.Ser70Asn)	FAM98A (S70N)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2371854	NM_015475.5(FAM98A):c.169T>A (p.Cys57Ser)	FAM98A (C57S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3277574	NM_015475.5(FAM98A):c.104C>A (p.Ala35Asp)	FAM98A (A35D)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2245793	NM_015475.5(FAM98A):c.86T>C (p.Leu29Pro)	FAM98A (L29P)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2235004	NM_015475.5(FAM98A):c.52G>C (p.Gly18Arg)	FAM98A (G18R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2277574	NM_015475.5(FAM98A):c.43G>A (p.Glu15Lys)	FAM98A (E15K)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3148883	GRCh37/hg19 2p25.3-22.3(chr2:12771-35541353)x3	ABHD1, ACP1 +182 more	Copy number gain	See cases	GPathogenic
Select item 3062647	GRCh37/hg19 2p23.1-21(chr2:30814984-42798684)x1	ARHGEF33, ATL2 +52 more	Copy number loss	not specified	GPathogenic
Select item 3062607	GRCh37/hg19 2p22.3(chr2:32437298-34106470)x1	BIRC6, FAM98A +6 more	Copy number loss	not specified	GUncertain significance
Select item 1808629	GRCh37/hg19 2p25.3-22.3(chr2:706460-35523639)x3	ABHD1, ADAM17 +177 more	Copy number gain	not provided	GPathogenic
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1527803	GRCh37/hg19 2p23.2-21(chr2:29899368-42441440)	ALK, ARHGEF33 +52 more	Copy number loss	not specified	GPathogenic
Select item 1220534	GRCh37/hg19 2p23.3-21(chr2:24601818-43466284)x3	OTOF, OXER1 +131 more	Copy number gain	See cases	GPathogenic
Select item 1176757	GRCh37/hg19 2p23.3-21(chr2:24881528-43460021)x3	DNAJC27, DNAJC5G +131 more	Copy number gain	not provided	GLikely pathogenic
Select item 814232	GRCh37/hg19 2p22.3(chr2:33722512-35207386)x3	RASGRP3, FAM98A	Copy number gain	not provided	GUncertain significance
Select item 687302	GRCh37/hg19 2p23.2-22.2(chr2:29940473-36813297)x1	ALK, BIRC6 +21 more	Copy number loss	not provided	GPathogenic
Select item 685336	GRCh37/hg19 2p23.1-22.3(chr2:31958977-33946495)x1	BIRC6, DPY30 +9 more	Copy number loss	not provided	GPathogenic
Select item 547174	inv(2)(p21p23.2)	RASGRP3, HNRNPLL +52 more	Inversion	Endometrial carcinoma	GLikely pathogenic
Select item 487484	t(2;2)(p23;p21)(hg19 chr2:g.42552694::ochr2:g.29446394)	ALK, ARHGEF33 +52 more	Inversion	Small cell lung carcinoma	GPathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 402127	GRCh37/hg19 2p23.3-16.1(chr2:27861707-60790985)x3	ABCG5, ABCG8 +139 more	Copy number gain	See cases	GPathogenic
Select item 394466	GRCh37/hg19 2p23.2-21(chr2:28069882-43543420)x3	ALK, ARHGEF33 +70 more	Copy number gain	See cases	GPathogenic

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Items: 56