KHDC1L[gene] - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154460	GRCh38/hg38 6q12-14.2(chr6:64549655-83426791)x1	ADGRB3, ADGRB3-DT +310 more	Copy number loss	See cases	GPathogenic
Select item 221709	GRCh38/hg38 6q13(chr6:72988135-73225292)x1	LOC113175017, LOC122539213 +4 more	Copy number loss	Premature ovarian failure	GUncertain significance
Select item 2395970	NM_001126063.3(KHDC1L):c.377C>A (p.Thr126Asn)	KHDC1L, LOC122539213 (T126N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2360192	NM_001126063.3(KHDC1L):c.371C>G (p.Pro124Arg)	KHDC1L, LOC122539213 (P124R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3113968	NM_001126063.3(KHDC1L):c.358G>T (p.Val120Phe)	KHDC1L, LOC122539213 (V120F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2253816	NM_001126063.3(KHDC1L):c.316G>A (p.Val106Ile)	KHDC1L, LOC122539213 (V106I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2332781	NM_001126063.3(KHDC1L):c.292C>G (p.Arg98Gly)	KHDC1L, LOC113175017 +1 more (R98G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2684447	GRCh37/hg19 6q13(chr6:73879839-74610369)x3	CD109, CGAS +10 more	Copy number gain	not provided	GUncertain significance
Select item 1710926	GRCh37/hg19 6q13(chr6:71105038-75200617)x1	B3GAT2, CD109 +17 more	Copy number loss	Autism	GPathogenic
Select item 1703664	GRCh37/hg19 6q12-14.1(chr6:64954687-79581678)	ADGRB3, B3GAT2 +32 more	Copy number loss	Chromosome 6q11-q14 deletion syndrome	GPathogenic
Select item 1527249	GRCh37/hg19 6q12-16.1(chr6:69938252-94379210)	BACH2, ADGRB3 +88 more	Copy number gain	not specified	GPathogenic
Select item 1410289	NC_000006.11:g.(?_73879449)_(74210458_?)dup	CGAS, DDX43 +7 more	Duplication	not provided	GUncertain significance
Select item 1341189	GRCh37/hg19 6q13-14.1(chr6:72799054-83275894)x1	BCKDHB, CD109 +31 more	Copy number loss	not provided	GPathogenic
Select item 1340605	GRCh37/hg19 6q13-14.1(chr6:70165296-79920769)x1	B3GAT2, CD109 +31 more	Copy number loss	not provided	GPathogenic
Select item 1071718	NC_000006.11:g.(?_72596727)_(74363609_?)del	EEF1A1, KCNQ5 +10 more	Deletion	Salla disease	GPathogenic
Select item 814829	GRCh37/hg19 6q13(chr6:73881985-74138519)x3	KHDC3L, OOEP +6 more	Copy number gain	not provided	GUncertain significance
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 563192	GRCh37/hg19 6q13-14.2(chr6:73674612-84829774)x1	BCKDHB, CD109 +40 more	Copy number loss	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

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Items: 20