ClinVar for Gene (Select 6631) - ClinVar - NCBI

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Links from Gene

Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3167054	NM_003093.3(SNRPC):c.265C>T (p.Pro89Ser)	SNRPC (P89S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3167053	NM_003093.3(SNRPC):c.262C>T (p.Arg88Cys)	SNRPC (R88C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3167052	NM_003093.3(SNRPC):c.239C>T (p.Pro80Leu)	SNRPC (P80L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2595116	NM_003093.3(SNRPC):c.373C>T (p.Pro125Ser)	SNRPC (P125S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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	KIFC1, LEMD2 +172 more	Duplication	Proteasome-associated autoinflammatory syndrome 1	GUncertain significance
Select item 2298235	NM_003093.3(SNRPC):c.224C>T (p.Ala75Val)	SNRPC (A75V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1338841	GRCh38/hg38 6p21.31(chr6:34587317-34856828)	BLTP3A, ILRUN +12 more	Copy number gain	Diaphragmatic hernia	GUncertain significance
Select item 997072	GRCh37/hg19 6p21.31-21.2(chr6:34401304-38435497)	ANKS1A, ARMC12 +49 more	Copy number loss	Severe intrauterine growth retardation	GPathogenic
Select item 686425	GRCh37/hg19 6p21.31(chr6:34630244-35087148)x3	ANKS1A, BLTP3A +4 more	Copy number gain	not provided	GUncertain significance
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	LRRC1, LRRC73 +427 more	Copy number gain	not provided	GPathogenic
Select item 563171	GRCh37/hg19 6p21.31-21.2(chr6:34683518-36905281)x3	UHRF1BP1, SRSF3 +34 more	Copy number gain	not provided	GLikely pathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AIRN, BNIP5 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	PDE10A, PDE7B +1028 more	Copy number gain	See cases	GPathogenic
Select item 394944	GRCh37/hg19 6p21.31(chr6:34730464-34869018)x3	ANKS1A, SNRPC +2 more	Copy number gain	See cases	GUncertain significance
Select item 253678	GRCh37/hg19 6p21.31(chr6:34482666-34949939)x3	SNRPC, ANKS1A +5 more	Copy number gain	See cases	GUncertain significance
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	CYP39A1, DAAM2 +2577 more	Copy number gain	See cases	GPathogenic