MCCD1[gene] - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 2334646	NM_001011700.3(MCCD1):c.73C>A (p.Pro25Thr)	MCCD1 (P25T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124205	NM_001011700.3(MCCD1):c.107C>G (p.Pro36Arg)	MCCD1 (P36R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276173	NM_001011700.3(MCCD1):c.121G>A (p.Glu41Lys)	MCCD1 (E41K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257178	NM_001011700.3(MCCD1):c.199C>A (p.Leu67Met)	MCCD1 (L67M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124206	NM_001011700.3(MCCD1):c.206G>A (p.Arg69Gln)	MCCD1 (R69Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3124207	NM_001011700.3(MCCD1):c.220T>G (p.Leu74Val)	MCCD1 (L74V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608500	NM_001011700.3(MCCD1):c.265G>A (p.Glu89Lys)	MCCD1 (E89K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124208	NM_001011700.3(MCCD1):c.329G>T (p.Arg110Met)	MCCD1 (R110M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293619	NM_001011700.3(MCCD1):c.353G>T (p.Gly118Val)	MCCD1 (G118V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283768	NM_001011700.3(MCCD1):c.356C>G (p.Ala119Gly)	MCCD1 (A119G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2427350	NC_000006.11:g.(?_30695893)_(36953949_?)dup	ABHD16A, AGER +172 more	Duplication	Proteasome-associated autoinflammatory syndrome 1	GUncertain significance
Select item 2424220	NC_000006.11:g.(?_30695893)_(31937492_?)dup	ABHD16A, AIF1 +63 more	Duplication	not provided	GUncertain significance
Select item 1527232	GRCh37/hg19 6p21.33(chr6:31384577-31902308)	ABHD16A, AIF1 +40 more	Copy number gain	not specified	GUncertain significance
Select item 974733	NC_000006.11:g.28005012_31683185del	ABCF1, ABHD16A +106 more	Deletion	Megacolon	GLikely pathogenic
Select item 814807	GRCh37/hg19 6p21.33-21.31(chr6:31036397-34088832)x3	ABHD16A, AGER +117 more	Copy number gain	not provided	GLikely pathogenic
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 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