ClinVar for Gene (Select 7940) - ClinVar - NCBI

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Links from Gene

Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3121367	NM_205839.3(LST1):c.265G>A (p.Ala89Thr)	LST1 (A58T +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3121366	NM_205839.3(LST1):c.263A>C (p.Tyr88Ser)	LST1 (Y95S +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2513327	NM_205839.3(LST1):c.38G>A (p.Gly13Asp)	LST1 (G13D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2512013	NM_205839.3(LST1):c.52G>A (p.Gly18Arg)	LST1 (G18R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2427350	NC_000006.11:g.(?_30695893)_(36953949_?)dup	KIFC1, LEMD2 +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 2403757	NM_205839.3(LST1):c.247G>A (p.Asp83Asn)	LST1 (D83N +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2336910	NM_205839.3(LST1):c.67G>C (p.Ala23Pro)	LST1 (A23P)	Single nucleotide variant (missense variant +1 more)	not specified	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)	LRRC1, LRRC73 +427 more	Copy number gain	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	TAAR8, TAAR9 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	VPS52, VTA1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	HCG26, HCG27 +2581 more	Copy number gain	See cases	GPathogenic