IRX3[gene] - ClinVar

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Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1184380	Single allele	SLC38A7, SLC6A2 +519 more	Duplication	not provided	GPathogenic
Select item 155685	GRCh38/hg38 16q12.1-22.1(chr16:49685521-68401712)x3	LOC130059125, LOC130059126 +675 more	Copy number gain	See cases	GPathogenic
Select item 59490	GRCh38/hg38 16q12.1-12.2(chr16:50784329-55566715)x1	AKTIP, CAPNS2 +104 more	Copy number loss	See cases	GPathogenic
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	LOC130059149, LOC130059150 +1738 more	Copy number gain	See cases	GPathogenic
Select item 1696636	Single allele	IRX5, IRX6 +189 more	Deletion	not provided	GPathogenic
Select item 3110958	NM_024336.3(IRX3):c.1394G>C (p.Ser465Thr)	IRX3 (S465T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 718710	NM_024336.3(IRX3):c.1335G>A (p.Pro445=)	IRX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2407127	NM_024336.3(IRX3):c.1322C>T (p.Ala441Val)	IRX3 (A441V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234955	NM_024336.3(IRX3):c.1247C>T (p.Pro416Leu)	IRX3 (P416L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 744457	NM_024336.3(IRX3):c.1200G>A (p.Ala400=)	IRX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2344498	NM_024336.3(IRX3):c.1189C>G (p.Leu397Val)	IRX3 (L397V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364512	NM_024336.3(IRX3):c.1136C>T (p.Ala379Val)	IRX3 (A379V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558766	NM_024336.3(IRX3):c.1121C>T (p.Pro374Leu)	IRX3 (P374L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407585	NM_024336.3(IRX3):c.1112G>T (p.Gly371Val)	IRX3 (G371V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353858	NM_024336.3(IRX3):c.1083C>G (p.Asn361Lys)	IRX3 (N361K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241700	NM_024336.3(IRX3):c.1030C>A (p.Leu344Met)	IRX3 (L344M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110957	NM_024336.3(IRX3):c.1016C>A (p.Ala339Asp)	IRX3 (A339D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298225	NM_024336.3(IRX3):c.1003G>T (p.Ala335Ser)	IRX3 (A335S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589065	NM_024336.3(IRX3):c.983C>A (p.Pro328His)	IRX3 (P328H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234544	NM_024336.3(IRX3):c.955G>A (p.Val319Met)	IRX3 (V319M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552811	NM_024336.3(IRX3):c.809T>A (p.Leu270Gln)	IRX3 (L270Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315463	NM_024336.3(IRX3):c.785C>T (p.Ala262Val)	IRX3 (A262V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479060	NM_024336.3(IRX3):c.664G>C (p.Gly222Arg)	IRX3 (G222R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110961	NM_024336.3(IRX3):c.472G>A (p.Gly158Ser)	IRX3 (G158S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 704001	NM_024336.3(IRX3):c.459C>A (p.Pro153=)	IRX3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 704543	NM_024336.3(IRX3):c.411G>A (p.Glu137=)	IRX3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3110960	NM_024336.3(IRX3):c.388C>G (p.Arg130Gly)	IRX3 (R130G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215164	NM_024336.3(IRX3):c.349T>G (p.Phe117Val)	IRX3 (F117V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110959	NM_024336.3(IRX3):c.220G>C (p.Gly74Arg)	IRX3 (G74R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455970	NM_024336.3(IRX3):c.161C>T (p.Ser54Leu)	IRX3 (S54L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245393	NM_024336.3(IRX3):c.155T>G (p.Val52Gly)	IRX3 (V52G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515976	NM_024336.3(IRX3):c.88G>T (p.Ala30Ser)	IRX3 (A30S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621979	NM_024336.3(IRX3):c.44A>G (p.Tyr15Cys)	IRX3 (Y15C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611023	NM_024336.3(IRX3):c.25C>G (p.Gln9Glu)	IRX3 (Q9E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2426119	NC_000016.9:g.(?_53635988)_(54967785_?)dup	FTO, IRX3 +2 more	Duplication	Meckel-Gruber syndrome +1 more	GUncertain significance
Select item 2426110	NC_000016.9:g.(?_53635988)_(55539614_?)del	FTO, IRX3 +4 more	Deletion	Familial aplasia of the vermis +1 more	GPathogenic
Select item 1807756	GRCh37/hg19 16q11.2-21(chr16:46503573-62203182)x3	HERPUD1, IRX3 +99 more	Copy number gain	not provided	GPathogenic
Select item 1676307	GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3	SYCE1L, TAF1C +368 more	Copy number gain	not provided	GPathogenic
Select item 1340306	GRCh37/hg19 16q12.2(chr16:53771653-54384400)x3	FTO, IRX3	Copy number gain	not provided	GUncertain significance
Select item 687857	GRCh37/hg19 16q12.2-21(chr16:53455650-64006604)x3	ADGRG1, ADGRG3 +68 more	Copy number gain	not provided	GUncertain significance
Select item 523162	GRCh37/hg19 16q11.2-24.3(chr16:46455960-90354753)x1	AARS1, ABCC11 +368 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 523156	GRCh37/hg19 16q11.2-24.3(chr16:46497599-90354753)x1	ADCY7, ADGRG1 +368 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443550	GRCh37/hg19 16p11.2-q21(chr16:34197492-64509054)x3	ABCC11, ABCC12 +100 more	Copy number gain	See cases	GPathogenic
Select item 443126	GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	AARS1, ABCC1 +591 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	ZC3H7A, ZCCHC14 +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	DPEP2, DPEP3 +811 more	Copy number gain	See cases	GPathogenic
Select item 221392	GRCh37/hg19 16q11.2-24.3(chr16:46615804-90142285)x1	GALNS, GAN +368 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance

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Items: 48