RETSAT[gene] - ClinVar

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Items: 76

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 145403	GRCh38/hg38 2p12-11.2(chr2:77025216-90282666)x3	ATOH8, C2orf68 +302 more	Copy number gain	See cases	GPathogenic
Select item 153632	GRCh38/hg38 2p11.2(chr2:85014686-88826619)x1	ATOH8, C2orf68 +179 more	Copy number loss	See cases	GPathogenic
Select item 151420	GRCh38/hg38 2p11.2(chr2:85179123-85369264)x3	ELMOD3, LOC102724579 +11 more	Copy number gain	See cases	GUncertain significance
Select item 2320105	NM_017750.4(RETSAT):c.1817A>C (p.Gln606Pro)	RETSAT (Q606P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153194	NM_017750.4(RETSAT):c.1813G>A (p.Ala605Thr)	RETSAT (A605T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540870	NM_017750.4(RETSAT):c.1810C>T (p.Arg604Trp)	RETSAT (R604W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 771334	NM_017750.4(RETSAT):c.1810C>A (p.Arg604=)	RETSAT	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2353024	NM_017750.4(RETSAT):c.1768C>T (p.Arg590Trp)	RETSAT (R590W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313769	NM_017750.4(RETSAT):c.1732C>A (p.Gln578Lys)	RETSAT (Q578K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546219	NM_017750.4(RETSAT):c.1720G>C (p.Val574Leu)	RETSAT (V574L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540659	NM_017750.4(RETSAT):c.1700A>G (p.Asp567Gly)	RETSAT (D567G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483249	NM_017750.4(RETSAT):c.1699G>T (p.Asp567Tyr)	RETSAT (D567Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345601	NM_017750.4(RETSAT):c.1675C>A (p.Pro559Thr)	RETSAT (P559T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345600	NM_017750.4(RETSAT):c.1658G>A (p.Arg553Lys)	RETSAT (R553K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554882	NM_017750.4(RETSAT):c.1633C>T (p.His545Tyr)	RETSAT (H545Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466145	NM_017750.4(RETSAT):c.1628G>A (p.Arg543His)	RETSAT (R543H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357309	NM_017750.4(RETSAT):c.1562T>C (p.Leu521Pro)	RETSAT (L521P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153193	NM_017750.4(RETSAT):c.1490C>T (p.Ser497Phe)	RETSAT (S497F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 785967	NM_017750.4(RETSAT):c.1458_1459del (p.Tyr486_Glu487delinsTer)	RETSAT	Deletion (nonsense)	not provided	GBenign
Select item 2455607	NM_017750.4(RETSAT):c.1445G>A (p.Arg482Gln)	RETSAT (R482Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153192	NM_017750.4(RETSAT):c.1414G>C (p.Glu472Gln)	RETSAT (E472Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486436	NM_017750.4(RETSAT):c.1362C>A (p.Phe454Leu)	RETSAT (F454L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224511	NM_017750.4(RETSAT):c.1343C>T (p.Pro448Leu)	RETSAT (P448L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153191	NM_017750.4(RETSAT):c.1324T>C (p.Phe442Leu)	RETSAT (F442L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 767807	NM_017750.4(RETSAT):c.1296G>A (p.Ala432=)	RETSAT	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 771335	NM_017750.4(RETSAT):c.1295C>T (p.Ala432Val)	RETSAT (A432V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2237586	NM_017750.4(RETSAT):c.1187G>A (p.Gly396Asp)	RETSAT (G396D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153190	NM_017750.4(RETSAT):c.1184G>A (p.Arg395Gln)	RETSAT (R395Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2361128	NM_017750.4(RETSAT):c.1148C>A (p.Pro383His)	RETSAT (P383H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153189	NM_017750.4(RETSAT):c.1139C>T (p.Thr380Met)	RETSAT (T380M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3313768	NM_017750.4(RETSAT):c.1106G>A (p.Arg369His)	RETSAT (R369H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153188	NM_017750.4(RETSAT):c.1101C>G (p.Asn367Lys)	RETSAT (N367K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153187	NM_017750.4(RETSAT):c.1060G>A (p.Ala354Thr)	RETSAT (A354T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281569	NM_017750.4(RETSAT):c.1037A>G (p.Tyr346Cys)	RETSAT (Y346C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516967	NM_017750.4(RETSAT):c.1003A>G (p.Ser335Gly)	RETSAT (S335G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258862	NM_017750.4(RETSAT):c.947C>G (p.Thr316Arg)	RETSAT (T316R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517622	NM_017750.4(RETSAT):c.937G>A (p.Ala313Thr)	RETSAT (A313T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153201	NM_017750.4(RETSAT):c.932G>A (p.Gly311Glu)	RETSAT (G311E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591653	NM_017750.4(RETSAT):c.808C>G (p.Pro270Ala)	RETSAT (P270A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153199	NM_017750.4(RETSAT):c.803T>A (p.Val268Asp)	RETSAT (V268D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 719005	NM_017750.4(RETSAT):c.780C>T (p.Ser260=)	RETSAT	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3153198	NM_017750.4(RETSAT):c.689G>A (p.Arg230His)	RETSAT (R230H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594033	NM_017750.4(RETSAT):c.677G>A (p.Gly226Glu)	RETSAT (G226E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238723	NM_017750.4(RETSAT):c.667G>C (p.Asp223His)	RETSAT (D223H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271087	NM_017750.4(RETSAT):c.569T>A (p.Ile190Asn)	RETSAT (I190N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313767	NM_017750.4(RETSAT):c.507G>A (p.Met169Ile)	RETSAT (M169I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204474	NM_017750.4(RETSAT):c.404T>A (p.Ile135Asn)	RETSAT (I135N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2651093	NM_017750.4(RETSAT):c.402del (p.Phe134fs)	RETSAT (F134fs)	Deletion (frameshift variant)	not provided	GLikely benign
Select item 2494885	NM_017750.4(RETSAT):c.392T>C (p.Ile131Thr)	RETSAT (I131T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313766	NM_017750.4(RETSAT):c.374G>A (p.Arg125His)	RETSAT (R125H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153197	NM_017750.4(RETSAT):c.368T>C (p.Ile123Thr)	RETSAT (I123T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390839	NM_017750.4(RETSAT):c.320A>G (p.His107Arg)	RETSAT (H107R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364710	NM_017750.4(RETSAT):c.292C>A (p.Gln98Lys)	RETSAT (Q98K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551607	NM_017750.4(RETSAT):c.266C>T (p.Ala89Val)	RETSAT (A89V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596693	NM_017750.4(RETSAT):c.218T>C (p.Ile73Thr)	RETSAT (I73T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590824	NM_017750.4(RETSAT):c.211G>A (p.Val71Met)	RETSAT (V71M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153195	NM_017750.4(RETSAT):c.200A>C (p.Lys67Thr)	RETSAT (K67T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219132	NM_017750.4(RETSAT):c.170A>G (p.Gln57Arg)	RETSAT (Q57R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306625	NM_017750.4(RETSAT):c.166A>C (p.Lys56Gln)	RETSAT (K56Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153200	NM_017750.4(RETSAT):c.82A>G (p.Ser28Gly)	RETSAT (S28G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 785968	NM_017750.4(RETSAT):c.45C>T (p.Ala15=)	RETSAT	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 1526840	GRCh37/hg19 2p12-11.2(chr2:82486900-87322042)	ATOH8, C2orf68 +35 more	Copy number loss	not specified	GPathogenic
Select item 1180533	GRCh37/hg19 2p12-11.2(chr2:81209244-86688030)x1	ELMOD3, GGCX +27 more	Copy number loss	not provided	GPathogenic
Select item 814279	GRCh37/hg19 2p11.2(chr2:85401388-85615492)x3	RETSAT, TGOLN2 +2 more	Copy number gain	not provided	GUncertain significance
Select item 814278	GRCh37/hg19 2p11.2(chr2:85357332-85685465)x3	SH2D6, TCF7L1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 685879	GRCh37/hg19 2p12-11.2(chr2:77907114-87330965)x1	ATOH8, C2orf68 +41 more	Copy number loss	not provided	GPathogenic
Select item 562678	GRCh37/hg19 2p13.1-11.2(chr2:74527522-89125488)x1	ATOH8, AUP1 +78 more	Copy number loss	not provided	GPathogenic
Select item 562661	GRCh37/hg19 2p12-11.2(chr2:82517612-86262705)x3	MAT2A, TCF7L1 +22 more	Copy number gain	not provided	GUncertain significance
Select item 560065	Single allele	AAK1, ACTG2 +127 more	Duplication	not provided	GPathogenic
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
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 442633	GRCh37/hg19 2p13.1-11.2(chr2:74365484-89129064)x1	SFTPB, SH2D6 +81 more	Copy number loss	See cases	GPathogenic

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Items: 76