LOC442028[gene] - ClinVar

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Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59145	GRCh38/hg38 2p11.2-q11.2(chr2:91443218-102334856)x3	ACTR1B, ADRA2B +331 more	Copy number gain	See cases	GPathogenic
Select item 152537	GRCh38/hg38 2q11.1-13(chr2:94678532-110602409)x3	ACTR1B, ADRA2B +550 more	Copy number gain	See cases	GPathogenic
Select item 148257	GRCh38/hg38 2q11.1(chr2:94751190-95675040)x3	FAHD2A, FAM95A +26 more	Copy number gain	See cases	GLikely benign
Select item 59146	GRCh38/hg38 2q11.1-12.1(chr2:94817406-103252396)x3	LOC129934355, LOC129934356 +348 more	Copy number gain	See cases	GPathogenic
Select item 2651113	NM_144705.4(TEKT4):c.6G>A (p.Ala2=)	LOC442028, TEKT4	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2523260	NM_144705.4(TEKT4):c.56G>A (p.Arg19His)	LOC442028, TEKT4 (R19H)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2279776	NM_144705.4(TEKT4):c.92C>A (p.Thr31Asn)	LOC442028, TEKT4 (T31N)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2651114	NM_144705.4(TEKT4):c.127G>A (p.Glu43Lys)	LOC442028, TEKT4 (E43K)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2492623	NM_144705.4(TEKT4):c.175C>T (p.Arg59Cys)	LOC442028, TEKT4 (R59C)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3175762	NM_144705.4(TEKT4):c.178G>A (p.Asp60Asn)	LOC442028, TEKT4 (D60N)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2461141	NM_144705.4(TEKT4):c.196C>T (p.Arg66Trp)	LOC442028, TEKT4 (R66W)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2227327	NM_144705.4(TEKT4):c.210G>T (p.Gln70His)	LOC442028, TEKT4 (Q70H)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3175763	NM_144705.4(TEKT4):c.233C>T (p.Ala78Val)	LOC442028, TEKT4 (A78V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2382506	NM_144705.4(TEKT4):c.263C>T (p.Thr88Met)	LOC442028, TEKT4 (T88M)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3325269	NM_144705.4(TEKT4):c.265C>A (p.Arg89Ser)	LOC442028, TEKT4 (R89S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2308622	NM_144705.4(TEKT4):c.275G>A (p.Gly92Asp)	LOC442028, TEKT4 (G92D)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2651115	NM_144705.4(TEKT4):c.320G>A (p.Arg107His)	LOC442028, TEKT4 (R107H)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2508003	NM_144705.4(TEKT4):c.328G>C (p.Glu110Gln)	LOC442028, TEKT4 (E110Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3325270	NM_144705.4(TEKT4):c.353T>C (p.Leu118Ser)	LOC442028, TEKT4 (L118S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3175764	NM_144705.4(TEKT4):c.367A>G (p.Lys123Glu)	LOC442028, TEKT4 (K123E)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3325268	NM_144705.4(TEKT4):c.416T>A (p.Ile139Asn)	LOC442028, TEKT4 (I139N)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3175765	NM_144705.4(TEKT4):c.449G>A (p.Arg150His)	LOC442028, TEKT4 (R150H)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3175766	NM_144705.4(TEKT4):c.451G>A (p.Glu151Lys)	LOC442028, TEKT4 (E151K)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2300982	NM_144705.4(TEKT4):c.453G>C (p.Glu151Asp)	LOC442028, TEKT4 (E151D)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2508195	NM_144705.4(TEKT4):c.463C>G (p.Leu155Val)	LOC442028, TEKT4 (L155V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2218715	NM_144705.4(TEKT4):c.469C>T (p.Arg157Cys)	LOC442028, TEKT4 (R157C)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2335939	NM_144705.4(TEKT4):c.474C>A (p.Asp158Glu)	LOC442028, TEKT4 (D158E)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2606382	NM_144705.4(TEKT4):c.478G>A (p.Val160Met)	LOC442028, TEKT4 (V160M)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2491651	NM_144705.4(TEKT4):c.496A>G (p.Lys166Glu)	LOC442028, TEKT4 (K166E)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2217564	NM_144705.4(TEKT4):c.515G>A (p.Arg172Gln)	LOC442028, TEKT4 (R172Q)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2533308	NM_144705.4(TEKT4):c.539G>A (p.Arg180Lys)	LOC442028, TEKT4 (R180K)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2521172	NM_144705.4(TEKT4):c.626C>T (p.Ala209Val)	LOC442028, TEKT4 (A209V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2561450	NM_144705.4(TEKT4):c.637G>A (p.Asp213Asn)	LOC442028, TEKT4 (D213N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218129	NM_144705.4(TEKT4):c.653G>A (p.Arg218His)	LOC442028, TEKT4 (R36H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175767	NM_144705.4(TEKT4):c.673G>A (p.Glu225Lys)	LOC442028, TEKT4 (E43K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354655	NM_144705.4(TEKT4):c.755A>G (p.Asn252Ser)	LOC442028, TEKT4 (N252S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360568	NM_144705.4(TEKT4):c.764G>A (p.Arg255His)	LOC442028, TEKT4 (R73H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343604	NM_144705.4(TEKT4):c.773G>A (p.Arg258His)	LOC442028, TEKT4 (R258H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175768	NM_144705.4(TEKT4):c.779G>A (p.Arg260His)	LOC442028, TEKT4 (R260H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411832	NM_144705.4(TEKT4):c.781C>G (p.Leu261Val)	LOC442028, TEKT4 (L261V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589604	NM_144705.4(TEKT4):c.809T>C (p.Val270Ala)	LOC442028, TEKT4 (V88A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175769	NM_144705.4(TEKT4):c.813C>G (p.Asp271Glu)	LOC442028, TEKT4 (D271E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175770	NM_144705.4(TEKT4):c.824G>A (p.Arg275His)	LOC442028, TEKT4 (R93H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325266	NM_144705.4(TEKT4):c.880C>T (p.Arg294Cys)	LOC442028, TEKT4 (R112C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2651116	NM_144705.4(TEKT4):c.881G>A (p.Arg294His)	LOC442028, TEKT4 (R112H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2537339	NM_144705.4(TEKT4):c.883C>T (p.Arg295Cys)	LOC442028, TEKT4 (R113C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175771	NM_144705.4(TEKT4):c.908G>A (p.Arg303Gln)	LOC442028, TEKT4 (R121Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376960	NM_144705.4(TEKT4):c.919C>A (p.His307Asn)	LOC442028, TEKT4 (H125N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205328	NM_144705.4(TEKT4):c.943C>T (p.Arg315Trp)	LOC442028, TEKT4 (R315W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175772	NM_144705.4(TEKT4):c.944G>A (p.Arg315Gln)	LOC442028, TEKT4 (R315Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299399	NM_144705.4(TEKT4):c.970G>A (p.Val324Met)	LOC442028, TEKT4 (V142M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456323	NM_144705.4(TEKT4):c.988G>A (p.Ala330Thr)	LOC442028, TEKT4 (A148T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325267	NM_144705.4(TEKT4):c.1006G>A (p.Ala336Thr)	LOC442028, TEKT4 (A154T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212646	NM_144705.4(TEKT4):c.1070G>A (p.Cys357Tyr)	LOC442028, TEKT4 (C175Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175757	NM_144705.4(TEKT4):c.1110G>T (p.Glu370Asp)	LOC442028, TEKT4 (E370D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175758	NM_144705.4(TEKT4):c.1157C>T (p.Ala386Val)	LOC442028, TEKT4 (A204V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248107	NM_144705.4(TEKT4):c.1180G>A (p.Glu394Lys)	LOC442028, TEKT4 (E394K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299947	NM_144705.4(TEKT4):c.1196G>A (p.Ser399Asn)	LOC442028, TEKT4 (S399N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175759	NM_144705.4(TEKT4):c.1214C>T (p.Ala405Val)	LOC442028, TEKT4 (A223V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175760	NM_144705.4(TEKT4):c.1244G>A (p.Arg415His)	LOC442028, TEKT4 (R233H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493048	NM_144705.4(TEKT4):c.1280C>A (p.Thr427Asn)	LOC442028, TEKT4 (T245N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 61