PITX1-AS1[gene] - ClinVar

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Items: 32

	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 146119	GRCh38/hg38 5q31.1(chr5:131626503-135815054)x1	ACSL6, ACSL6-AS1 +263 more	Copy number loss	See cases	GPathogenic
Select item 58360	GRCh38/hg38 5q31.1(chr5:132816203-135383158)x1	AFF4, AFF4-DT +147 more	Copy number loss	See cases	GPathogenic
Select item 58361	GRCh38/hg38 5q31.1-31.2(chr5:133401565-138437038)x1	BRD8, C5orf15 +230 more	Copy number loss	See cases	GPathogenic
Select item 59471	GRCh38/hg38 5q31.1(chr5:134873523-135297352)x3	CATSPER3, EPIST +14 more	Copy number gain	See cases	GUncertain significance
Select item 1278728	NM_002653.5(PITX1):c.169+145C>T	PITX1, PITX1-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1701768	NM_002653.5(PITX1):c.158C>T (p.Thr53Met)	PITX1, PITX1-AS1 (T53M)	Single nucleotide variant (missense variant)	Clubfoot	GUncertain significance
Select item 1315054	NM_002653.5(PITX1):c.139G>T (p.Ala47Ser)	PITX1, PITX1-AS1 (A47S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1685006	NM_002653.5(PITX1):c.89C>T (p.Ala30Val)	PITX1, PITX1-AS1 (A30V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1325843	NM_002653.5(PITX1):c.87del (p.Ala30fs)	PITX1, PITX1-AS1 (A30fs)	Deletion (frameshift variant)	Clubfoot	GLikely pathogenic
Select item 3213307	NM_002653.5(PITX1):c.79A>G (p.Met27Val)	PITX1, PITX1-AS1 (M27V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1706129	NM_002653.5(PITX1):c.77A>C (p.Asp26Ala)	PITX1-AS1, PITX1 (D26A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 745264	NM_002653.5(PITX1):c.75T>C (p.His25=)	PITX1, PITX1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2634771	NM_002653.5(PITX1):c.54GCC[6] (p.Pro24_His25insPro)	PITX1, PITX1-AS1	Microsatellite (inframe_insertion)	PITX1-related disorder	GUncertain significance
Select item 2555617	NM_002653.5(PITX1):c.67C>T (p.Pro23Ser)	PITX1, PITX1-AS1 (P23S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1528967	NM_002653.5(PITX1):c.36G>A (p.Arg12=)	PITX1-AS1, PITX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3306750	NM_002653.5(PITX1):c.20G>T (p.Gly7Val)	PITX1, PITX1-AS1 (G7V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1274487	NM_002653.5(PITX1):c.-221G>T	PITX1, PITX1-AS1	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1268490	NM_002653.5(PITX1):c.-293AGCCGG[3]	PITX1, PITX1-AS1	Microsatellite (5 prime UTR variant)	not provided	GBenign
Select item 1275056	NC_000005.10:g.135034491C>T	PITX1-AS1, PITX1	Single nucleotide variant	not provided	GBenign
Select item 144268	GRCh38/hg38 5q31.1-31.3(chr5:135297294-140106003)x3	BRD8, CDC23 +236 more	Copy number gain	See cases	GPathogenic
Select item 3121930	NM_138610.3(MACROH2A1):c.1067G>A (p.Ser356Asn)	MACROH2A1, PITX1-AS1 (S353N +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3121929	NM_138610.3(MACROH2A1):c.1028C>A (p.Ser343Tyr)	MACROH2A1, PITX1-AS1 (S343Y +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3121928	NM_138610.3(MACROH2A1):c.1024A>G (p.Met342Val)	MACROH2A1, PITX1-AS1 (M170V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2513708	NM_138610.3(MACROH2A1):c.1015G>A (p.Val339Met)	MACROH2A1, PITX1-AS1 (V336M +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2508246	NM_138610.3(MACROH2A1):c.995A>G (p.Lys332Arg)	MACROH2A1, PITX1-AS1 (K329R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 716117	NM_138610.3(MACROH2A1):c.948C>T (p.Ser316=)	LOC126807518, MACROH2A1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 2491874	NM_138610.3(MACROH2A1):c.866T>C (p.Leu289Pro)	LOC126807518, MACROH2A1 +1 more (L285P +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3121934	NM_138610.3(MACROH2A1):c.865C>T (p.Leu289Phe)	LOC126807518, MACROH2A1 +1 more (L117F +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3121933	NM_138610.3(MACROH2A1):c.847G>A (p.Ala283Thr)	LOC126807518, MACROH2A1 +1 more (A111T +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance

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Items: 32