13916[HGNC] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

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 2920838	NM_001256169.2(APOM):c.-102-1433T>C	APOM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2407504	NM_019101.3(APOM):c.70C>A (p.Pro24Thr)	APOM (P24T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2262780	NM_019101.3(APOM):c.236C>T (p.Pro79Leu)	APOM (P7L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3128061	NM_019101.3(APOM):c.240G>A (p.Met80Ile)	APOM (M8I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1678258	NM_019101.3(APOM):c.261_269+28del	APOM	Deletion (splice donor variant)	not provided	GUncertain significance
Select item 2251705	NM_019101.3(APOM):c.266G>C (p.Arg89Pro)	APOM (R17P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2588535	NM_019101.3(APOM):c.404A>T (p.Asn135Ile)	APOM (N63I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2514046	NM_019101.3(APOM):c.421T>A (p.Tyr141Asn)	APOM (Y69N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2337233	NM_019101.3(APOM):c.463G>A (p.Glu155Lys)	APOM (E83K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3246239	NC_000006.11:g.(?_31620520)_(31937492_?)del	ABHD16A, APOM +28 more	Deletion	not provided	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