15630[HGNC] - ClinVar

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Items: 63

	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 150685	GRCh38/hg38 5q31.3-32(chr5:141089988-149530678)x3	ABLIM3, ADRB2 +313 more	Copy number gain	See cases	GPathogenic
Select item 147500	GRCh38/hg38 5q32(chr5:145197355-148541511)x1	C5orf46, CTB-99A3.1 +82 more	Copy number loss	See cases	GPathogenic
Select item 2232509	NM_001382548.1(TCERG1):c.10C>G (p.Arg4Gly)	TCERG1 (R4G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2561991	NM_001382548.1(TCERG1):c.22G>T (p.Gly8Trp)	TCERG1 (G8W)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2655878	NM_001382548.1(TCERG1):c.96G>A (p.Pro32=)	TCERG1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 998159	NM_001382548.1(TCERG1):c.192del (p.Pro65fs)	TCERG1 (P65fs)	Deletion (frameshift variant)	Colorectal cancer	GPathogenic
Select item 2224874	NM_001382548.1(TCERG1):c.457C>T (p.Arg153Trp)	TCERG1 (R133W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2256891	NM_001382548.1(TCERG1):c.479C>T (p.Thr160Ile)	TCERG1 (T160I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3175075	NM_001382548.1(TCERG1):c.584C>T (p.Ala195Val)	TCERG1 (A175V +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2354853	NM_001382548.1(TCERG1):c.614C>T (p.Ala205Val)	TCERG1 (A185V +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2655880	NM_001382548.1(TCERG1):c.621T>G (p.Ala207=)	TCERG1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2655879	NM_001382548.1(TCERG1):c.621T>C (p.Ala207=)	TCERG1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2655881	NM_001382548.1(TCERG1):c.630G>A (p.Gln210=)	TCERG1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2655882	NM_001382548.1(TCERG1):c.636G>A (p.Gln212=)	TCERG1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2655883	NM_001382548.1(TCERG1):c.639C>A (p.Ala213=)	TCERG1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2655884	NM_001382548.1(TCERG1):c.642G>A (p.Gln214=)	TCERG1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3175076	NM_001382548.1(TCERG1):c.734C>T (p.Ala245Val)	TCERG1 (A225V +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3175077	NM_001382548.1(TCERG1):c.758C>T (p.Ala253Val)	TCERG1 (A227V +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2214204	NM_001382548.1(TCERG1):c.821C>A (p.Thr274Lys)	TCERG1 (T248K +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 714282	NM_001382548.1(TCERG1):c.836C>T (p.Pro279Leu)	TCERG1 (P279L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2528132	NM_001382548.1(TCERG1):c.911A>G (p.Gln304Arg)	TCERG1 (Q246R +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2294077	NM_001382548.1(TCERG1):c.986T>C (p.Val329Ala)	TCERG1 (V299A +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2304100	NM_001382548.1(TCERG1):c.989A>C (p.Gln330Pro)	TCERG1 (Q302P +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2304101	NM_001382548.1(TCERG1):c.990A>C (p.Gln330His)	TCERG1 (Q300H +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2359455	NM_001382548.1(TCERG1):c.1039T>C (p.Ser347Pro)	TCERG1 (S319P +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2228198	NM_001382548.1(TCERG1):c.1043T>C (p.Val348Ala)	TCERG1 (V320A +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2395429	NM_001382548.1(TCERG1):c.1234A>G (p.Met412Val)	TCERG1 (M391V +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2602476	NM_001382548.1(TCERG1):c.1273A>G (p.Thr425Ala)	TCERG1 (T384A +9 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2303625	NM_001382548.1(TCERG1):c.1478A>G (p.Asp493Gly)	TCERG1 (D404G +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3175069	NM_001382548.1(TCERG1):c.1499A>G (p.Lys500Arg)	TCERG1 (K474R +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3175070	NM_001382548.1(TCERG1):c.1622A>T (p.Asp541Val)	TCERG1 (D452V +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2618878	NM_001382548.1(TCERG1):c.1709A>G (p.Lys570Arg)	TCERG1 (K519R +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2492099	NM_001382548.1(TCERG1):c.1722G>T (p.Glu574Asp)	TCERG1 (E533D +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2390285	NM_001382548.1(TCERG1):c.1814G>A (p.Ser605Asn)	TCERG1 (S554N +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3175071	NM_001382548.1(TCERG1):c.1882C>T (p.Arg628Trp)	TCERG1 (R539W +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2474890	NM_001382548.1(TCERG1):c.1987G>A (p.Ala663Thr)	TCERG1 (A597T +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3175073	NM_001382548.1(TCERG1):c.2164G>A (p.Val722Met)	TCERG1 (V654M +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 740815	NM_001382548.1(TCERG1):c.2217A>G (p.Lys739=)	TCERG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3175074	NM_001382548.1(TCERG1):c.2229G>T (p.Met743Ile)	TCERG1 (M647I +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2358623	NM_001382548.1(TCERG1):c.2393G>A (p.Arg798Lys)	TCERG1 (R730K +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2493515	NM_001382548.1(TCERG1):c.2396A>G (p.Lys799Arg)	TCERG1 (K731R +12 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2528656	NM_001382548.1(TCERG1):c.2414C>T (p.Ser805Leu)	TCERG1 (S699L +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2389858	NM_001382548.1(TCERG1):c.2518A>G (p.Ser840Gly)	TCERG1 (S782G +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2471026	NM_001382548.1(TCERG1):c.2543A>G (p.Asp848Gly)	TCERG1 (D742G +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2483541	NM_001382548.1(TCERG1):c.2721G>C (p.Glu907Asp)	TCERG1 (E849D +12 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2367206	NM_001382548.1(TCERG1):c.2762A>G (p.Lys921Arg)	TCERG1 (K855R +12 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2655885	NM_001382548.1(TCERG1):c.2877A>G (p.Lys959=)	TCERG1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2407208	NM_001382548.1(TCERG1):c.2957C>G (p.Ser986Cys)	TCERG1 (S920C +14 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2296662	NM_001382548.1(TCERG1):c.3242C>G (p.Pro1081Arg)	TCERG1 (P1038R +14 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062812	GRCh37/hg19 5q31.3-32(chr5:141566629-147240595)x1	ARHGAP26, DPYSL3 +19 more	Copy number loss	not specified	GPathogenic
Select item 687529	GRCh37/hg19 5q31.3-32(chr5:140424333-148985999)x3	ABLIM3, ADRB2 +92 more	Copy number gain	not provided	GUncertain significance
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 635929	Single allele	SH3RF2, TCERG1 +8 more	Deletion	Neurodevelopmental disorder	GUncertain significance
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 442272	GRCh37/hg19 5q31.3-32(chr5:141113273-149154835)x1	ABLIM3, ADRB2 +48 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: 63