LY6G5C[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 3292350	NM_025262.4(LY6G5C):c.434G>C (p.Arg145Thr)	LY6G5C (R145T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609319	NM_025262.4(LY6G5C):c.368C>T (p.Pro123Leu)	LY6G5C (P123L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373814	NM_025262.4(LY6G5C):c.339G>A (p.Met113Ile)	LY6G5C (M113I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234924	NM_025262.4(LY6G5C):c.309G>A (p.Met103Ile)	LY6G5C (M103I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2656414	NM_025262.4(LY6G5C):c.123T>C (p.Gly41=)	LY6G5C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3121616	NM_025262.4(LY6G5C):c.100G>C (p.Val34Leu)	LY6G5C (V34L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236898	NM_025262.4(LY6G5C):c.71C>A (p.Ala24Asp)	LY6G5C (A24D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3338455	GRCh37/hg19 6p21.33(chr6:31630124-31657924)x1	ABHD16A, CSNK2B +3 more	Copy number loss	Poirier-Bienvenu neurodevelopmental syndrome	GLikely pathogenic
Select item 3246239	NC_000006.11:g.(?_31620520)_(31937492_?)del	ABHD16A, APOM +28 more	Deletion	not provided	GUncertain significance
Select item 3246158	NC_000006.11:g.(?_31631971)_(31895135_?)del	ABHD16A, C2 +23 more	Deletion	not provided	GPathogenic
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