LOC101928386[gene] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148432	GRCh38/hg38 2q22.1-22.3(chr2:136937358-146681810)x1	LOC129934870, LOC129934871 +75 more	Copy number loss	See cases	GPathogenic
Select item 57333	GRCh38/hg38 2q22.1-22.3(chr2:140186521-146528244)x1	ARHGAP15, ARHGAP15-AS1 +50 more	Copy number loss	See cases	GPathogenic
Select item 60212	GRCh38/hg38 2q22.2-22.3(chr2:141666537-147845662)x1	ACVR2A, ARHGAP15 +57 more	Copy number loss	See cases	GPathogenic
Select item 150244	GRCh38/hg38 2q22.2-22.3(chr2:143294079-147713830)x1	ARHGAP15, ARHGAP15-AS1 +43 more	Copy number loss	See cases	GPathogenic
Select item 60213	GRCh38/hg38 2q22.3(chr2:143873711-144513307)x1	GTDC1, LOC101928386 +12 more	Copy number loss	See cases	GPathogenic
Select item 146076	GRCh38/hg38 2q22.3-24.1(chr2:143900149-158321624)x3	ACVR1, ACVR1C +238 more	Copy number gain	See cases	GPathogenic
Select item 34454	GRCh38/hg38 2q22.3(chr2:143900149-144668138)x3	GTDC1, LINC01412 +17 more	Copy number gain	See cases	GUncertain significance
Select item 2651392	NM_001376312.2(GTDC1):c.1308G>A (p.Pro436=)	GTDC1, LOC101928386	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 727232	NM_001376312.2(GTDC1):c.1308G>T (p.Pro436=)	GTDC1, LOC101928386	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 712902	NM_001376312.2(GTDC1):c.1307C>T (p.Pro436Leu)	GTDC1, LOC101928386 (P318L +9 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2297712	NM_001376312.2(GTDC1):c.1202C>T (p.Ala401Val)	GTDC1, LOC101928386 (A450V +9 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2355311	NM_001376312.2(GTDC1):c.1199C>G (p.Pro400Arg)	GTDC1, LOC101928386 (P282R +11 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2370448	NM_001376312.2(GTDC1):c.1195T>C (p.Phe399Leu)	GTDC1, LOC101928386 (F367L +8 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2553240	NM_001376312.2(GTDC1):c.1178T>G (p.Leu393Trp)	GTDC1, LOC101928386 (L308W +11 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2334212	NM_001376312.2(GTDC1):c.1166G>C (p.Cys389Ser)	GTDC1, LOC101928386 (C237S +11 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance