ClinVar for Gene (Select 221491) - ClinVar - NCBI

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Links from Gene

Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3166585	NM_001008703.4(SMIM29):c.170T>C (p.Met57Thr)	SMIM29 (M37T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3166584	NM_001008703.4(SMIM29):c.*261C>T	SMIM29	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 3166580	NM_001008703.4(SMIM29):c.*198G>A	SMIM29	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3166579	NM_001008703.4(SMIM29):c.*128C>T	SMIM29	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3166578	NM_001008703.4(SMIM29):c.*41G>T	SMIM29	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3166577	NM_001008703.4(SMIM29):c.305C>T (p.Thr102Met)	SMIM29 (T82M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2656504	NM_001008703.4(SMIM29):c.*55C>T	SMIM29	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2445505	NC_000006.11:g.(?_32148920)_(36953949_?)dup	ANKS1A, FKBP5 +94 more	Duplication	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 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
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic