9769[HGNC] - ClinVar

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Items: 71

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 660703	NC_000006.11:g.(?_33131435)_(33419703_?)dup	B3GALT4, COL11A2 +26 more	Duplication	Intellectual disability, autosomal dominant 5	GUncertain significance
Select item 2570326	NM_004761.5(RGL2):c.2279G>T (p.Gly760Val)	RGL2 (G760V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323443	NM_004761.5(RGL2):c.2279G>A (p.Gly760Asp)	RGL2 (G678D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313972	NM_004761.5(RGL2):c.2131A>C (p.Ile711Leu)	RGL2 (I711L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313969	NM_004761.5(RGL2):c.2089T>C (p.Tyr697His)	RGL2 (Y615H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313965	NM_004761.5(RGL2):c.2065C>T (p.Arg689Cys)	RGL2 (R689C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153557	NM_004761.5(RGL2):c.2048T>C (p.Val683Ala)	RGL2 (V601A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153556	NM_004761.5(RGL2):c.2045G>A (p.Arg682His)	RGL2 (R682H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458885	NM_004761.5(RGL2):c.1982A>G (p.Asp661Gly)	RGL2 (D661G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398428	NM_004761.5(RGL2):c.1897G>A (p.Gly633Arg)	RGL2 (G551R +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3153555	NM_004761.5(RGL2):c.1880G>T (p.Gly627Val)	RGL2 (G627V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313970	NM_004761.5(RGL2):c.1834C>G (p.Arg612Gly)	RGL2 (R612G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221747	NM_004761.5(RGL2):c.1793C>T (p.Pro598Leu)	RGL2 (P598L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 784072	NM_004761.5(RGL2):c.1766G>C (p.Ser589Thr)	RGL2 (S507T +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2380239	NM_004761.5(RGL2):c.1706G>A (p.Arg569Gln)	RGL2 (R569Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313967	NM_004761.5(RGL2):c.1705C>T (p.Arg569Trp)	RGL2 (R487W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542298	NM_004761.5(RGL2):c.1667G>C (p.Gly556Ala)	RGL2 (G556A +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3153554	NM_004761.5(RGL2):c.1651C>T (p.Arg551Trp)	RGL2 (R469W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153553	NM_004761.5(RGL2):c.1634C>T (p.Pro545Leu)	RGL2 (P463L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153552	NM_004761.5(RGL2):c.1634C>G (p.Pro545Arg)	RGL2 (P463R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289217	NM_004761.5(RGL2):c.1631C>T (p.Thr544Ile)	RGL2 (T462I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153551	NM_004761.5(RGL2):c.1574G>A (p.Arg525Gln)	RGL2 (R443Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339280	NM_004761.5(RGL2):c.1565G>A (p.Arg522Gln)	RGL2 (R522Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153550	NM_004761.5(RGL2):c.1559C>G (p.Ala520Gly)	RGL2 (A520G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352716	NM_004761.5(RGL2):c.1487G>A (p.Arg496Gln)	RGL2 (R414Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2281744	NM_004761.5(RGL2):c.1450C>T (p.Pro484Ser)	RGL2 (P402S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252179	NM_004761.5(RGL2):c.1396G>A (p.Val466Ile)	RGL2 (V466I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536378	NM_004761.5(RGL2):c.1270C>T (p.Arg424Trp)	RGL2 (R342W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313966	NM_004761.5(RGL2):c.1240C>T (p.His414Tyr)	RGL2 (H332Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378296	NM_004761.5(RGL2):c.1204G>A (p.Val402Met)	RGL2 (V320M +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3153548	NM_004761.5(RGL2):c.1178A>G (p.Asn393Ser)	RGL2 (N311S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408018	NM_004761.5(RGL2):c.1109G>T (p.Trp370Leu)	RGL2 (W288L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523256	NM_004761.5(RGL2):c.1063G>T (p.Val355Leu)	RGL2 (V273L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313964	NM_004761.5(RGL2):c.1060G>A (p.Val354Met)	RGL2 (V354M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153547	NM_004761.5(RGL2):c.1037G>A (p.Arg346Gln)	RGL2 (R346Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319190	NM_004761.5(RGL2):c.1010G>A (p.Arg337His)	RGL2 (R255H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219637	NM_004761.5(RGL2):c.988C>T (p.Arg330Trp)	RGL2 (R248W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153564	NM_004761.5(RGL2):c.977C>G (p.Pro326Arg)	RGL2 (P326R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329501	NM_004761.5(RGL2):c.895G>A (p.Gly299Arg)	RGL2 (G217R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494102	NM_004761.5(RGL2):c.893C>T (p.Ala298Val)	RGL2 (A216V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539562	NM_004761.5(RGL2):c.842C>G (p.Ser281Cys)	RGL2 (S199C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606287	NM_004761.5(RGL2):c.706C>A (p.Pro236Thr)	RGL2 (P236T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305465	NM_004761.5(RGL2):c.646G>A (p.Asp216Asn)	RGL2 (D134N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153563	NM_004761.5(RGL2):c.638C>T (p.Ser213Phe)	RGL2 (S213F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153562	NM_004761.5(RGL2):c.626G>A (p.Arg209His)	RGL2 (R209H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1685064	NM_004761.5(RGL2):c.608dup (p.Ser204fs)	RGL2 (S122fs +1 more)	Duplication (frameshift variant)	not specified	GUncertain significance
Select item 3153561	NM_004761.5(RGL2):c.605G>T (p.Gly202Val)	RGL2 (G120V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589973	NM_004761.5(RGL2):c.604G>T (p.Gly202Trp)	RGL2 (G202W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520347	NM_004761.5(RGL2):c.602G>A (p.Gly201Glu)	RGL2 (G201E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337535	NM_004761.5(RGL2):c.602G>T (p.Gly201Val)	RGL2 (G201V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3313968	NM_004761.5(RGL2):c.589G>A (p.Gly197Arg)	RGL2 (G197R +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3153560	NM_004761.5(RGL2):c.451G>A (p.Glu151Lys)	RGL2 (E151K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153559	NM_004761.5(RGL2):c.410T>C (p.Met137Thr)	RGL2 (M55T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608443	NM_004761.5(RGL2):c.356C>T (p.Ala119Val)	RGL2 (A119V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316969	NM_004761.5(RGL2):c.269G>A (p.Arg90Gln)	RGL2 (R90Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 784073	NM_004761.5(RGL2):c.204C>T (p.Thr68=)	RGL2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 3153549	NM_004761.5(RGL2):c.122G>C (p.Gly41Ala)	RGL2 (G41A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2614008	NM_004761.5(RGL2):c.79G>A (p.Asp27Asn)	RGL2 (D27N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2656485	NM_004761.5(RGL2):c.63C>T (p.Ser21=)	RGL2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3153558	NM_004761.5(RGL2):c.39C>G (p.Ser13Arg)	RGL2 (S13R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3246013	NC_000006.11:g.(?_33131455)_(33388128_?)dup	B3GALT4, COL11A2 +17 more	Duplication	MHC class I deficiency	GUncertain significance
Select item 2445505	NC_000006.11:g.(?_32148920)_(36953949_?)dup	ARMC12, BRPF3 +94 more	Duplication	not provided	GUncertain significance
Select item 2427350	NC_000006.11:g.(?_30695893)_(36953949_?)dup	ABHD16A, AGER +172 more	Duplication	Proteasome-associated autoinflammatory syndrome 1	GUncertain significance
Select item 1527234	GRCh37/hg19 6p21.32-21.31(chr6:33069892-33751391)	B3GALT4, BAK1 +23 more	Copy number gain	not specified	GUncertain significance
Select item 831717	NC_000006.12:g.(?_33173681)_(33451926_?)dup	B3GALT4, COL11A2 +17 more	Duplication	Intellectual disability, autosomal dominant 5	GUncertain significance
Select item 814807	GRCh37/hg19 6p21.33-21.31(chr6:31036397-34088832)x3	ABHD16A, AGER +117 more	Copy number gain	not provided	GLikely pathogenic
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	ERVH-3, ETV7 +427 more	Copy number gain	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 221456	GRCh37/hg19 6p21.32(chr6:33256191-33400523)x3	KIFC1, CUTA +8 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance

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Items: 71