KHDC1[gene] - ClinVar

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Items: 38

	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 2292378	NM_030568.5(KHDC1):c.482C>T (p.Ser161Leu)	KHDC1, LOC122539213 (S161L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509400	NM_030568.5(KHDC1):c.464C>T (p.Ser155Leu)	KHDC1, LOC122539213 (S155L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330286	NM_030568.5(KHDC1):c.455T>C (p.Ile152Thr)	KHDC1, LOC122539213 (I152T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233070	NM_030568.5(KHDC1):c.442C>T (p.Pro148Ser)	KHDC1, LOC122539213 (P148S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402111	NM_030568.5(KHDC1):c.427G>A (p.Val143Ile)	KHDC1, LOC122539213 (V143I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510548	NM_030568.5(KHDC1):c.415G>A (p.Val139Met)	KHDC1, LOC122539213 (V139M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113965	NM_030568.5(KHDC1):c.377C>T (p.Thr126Ile)	KHDC1, LOC122539213 (T126I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223711	NM_030568.5(KHDC1):c.364G>C (p.Val122Leu)	KHDC1, LOC122539213 (V122L +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2250730	NM_030568.5(KHDC1):c.340G>A (p.Asp114Asn)	KHDC1, LOC122539213 (D114N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590237	NM_030568.5(KHDC1):c.314G>A (p.Arg105His)	KHDC1, LOC122539213 (R105H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357614	NM_030568.5(KHDC1):c.313C>T (p.Arg105Cys)	KHDC1, LOC122539213 (R105C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364682	NM_030568.5(KHDC1):c.293G>A (p.Arg98Gln)	KHDC1, LOC122539213 (R98Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 3113962	NM_030568.5(KHDC1):c.205G>A (p.Val69Met)	KHDC1, LOC122539213 (V69M)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2474491	NM_030568.5(KHDC1):c.202C>T (p.Arg68Cys)	KHDC1, LOC122539213 (R68C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2360544	NM_030568.5(KHDC1):c.180G>T (p.Trp60Cys)	KHDC1, LOC122539213 (W60C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2456627	NM_030568.5(KHDC1):c.155A>G (p.His52Arg)	KHDC1, LOC122539213 (H52R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2516449	NM_030568.5(KHDC1):c.133C>T (p.Arg45Cys)	KHDC1, LOC122539213 (R45C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3288021	NM_030568.5(KHDC1):c.84G>A (p.Met28Ile)	KHDC1, LOC122539213 (M28I)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2384937	NM_030568.5(KHDC1):c.55A>C (p.Asn19His)	KHDC1, LOC122539213 (N19H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3113967	NM_030568.5(KHDC1):c.52C>G (p.Gln18Glu)	KHDC1, LOC122539213 (Q18E)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 3113966	NM_030568.5(KHDC1):c.38G>C (p.Trp13Ser)	KHDC1, LOC122539213 (W13S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3113964	NM_030568.5(KHDC1):c.35C>T (p.Pro12Leu)	LOC122539213, KHDC1 (P12L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3113963	NM_030568.5(KHDC1):c.32A>G (p.Lys11Arg)	KHDC1, LOC122539213 (K11R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2262933	NM_030568.5(KHDC1):c.8T>C (p.Met3Thr)	KHDC1, LOC122539213 (M3T)	Single nucleotide variant (non-coding transcript 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: 38