6709[HGNC] - ClinVar

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Items: 23

	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 14381	NM_000595.4(LTA):c.-92=	LOC100287329, LTA	Single nucleotide variant (no sequence alteration +1 more)	Leprosy, early-onset, susceptibility to	Grisk factor
Select item 14380	NM_000595.4(LTA):c.-10+90A>G	LOC100287329, LTA	Single nucleotide variant (intron variant)	Myocardial infarction, susceptibility to +1 more	Grisk factor
Select item 3059641	NM_000595.4(LTA):c.37T>C (p.Cys13Arg)	LTA (C13R)	Single nucleotide variant (missense variant)	LTA-related disorder	GBenign
Select item 3292185	NM_000595.4(LTA):c.103C>A (p.Leu35Ile)	LTA (L35I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121369	NM_000595.4(LTA):c.158A>G (p.Lys53Arg)	LTA (K53R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465716	NM_000595.4(LTA):c.178A>G (p.Thr60Ala)	LTA (T60A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 14379	NM_000595.4(LTA):c.179C>A (p.Thr60Asn)	LTA (T60N)	Single nucleotide variant (missense variant)	LTA-related disorder +1 more	GBenign; risk factor
Select item 3050752	NM_000595.4(LTA):c.192T>C (p.Ala64=)	LTA	Single nucleotide variant (synonymous variant)	LTA-related disorder	GLikely benign
Select item 3292184	NM_000595.4(LTA):c.248C>T (p.Thr83Met)	LTA (T83M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292186	NM_000595.4(LTA):c.271G>C (p.Gly91Arg)	LTA (G91R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478831	NM_000595.4(LTA):c.316A>G (p.Ile106Val)	LTA (I106V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121370	NM_000595.4(LTA):c.325G>A (p.Val109Ile)	LTA (V109I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121371	NM_000595.4(LTA):c.422A>C (p.Gln141Pro)	LTA (Q141P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622109	NM_000595.4(LTA):c.511G>A (p.Ala171Thr)	LTA (A171T)	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

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Items: 23