PSORS1C2[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ANKRD66, C6orf201 +2580 more	Copy number gain	See cases	GPathogenic
Select item 2483536	NM_014069.3(PSORS1C2):c.376C>T (p.Pro126Ser)	PSORS1C1, PSORS1C2 (P126S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3220524	NM_014069.3(PSORS1C2):c.340C>T (p.Pro114Ser)	PSORS1C1, PSORS1C2 (P114S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2618113	NM_014069.3(PSORS1C2):c.221G>A (p.Arg74Lys)	PSORS1C1, PSORS1C2 (R74K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2603988	NM_014069.3(PSORS1C2):c.209G>C (p.Ser70Thr)	PSORS1C1, PSORS1C2 (S70T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2351999	NM_014069.3(PSORS1C2):c.166G>A (p.Gly56Arg)	PSORS1C1, PSORS1C2 (G56R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 707910	NM_014069.3(PSORS1C2):c.151G>A (p.Gly51Ser)	PSORS1C1, PSORS1C2 (G51S)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2494361	NM_014069.3(PSORS1C2):c.125C>T (p.Thr42Ile)	PSORS1C1, PSORS1C2 (T42I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 712615	NM_014069.3(PSORS1C2):c.55+326A>G	PSORS1C1, PSORS1C2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3059991	NM_014068.3(PSORS1C1):c.70C>A (p.Pro24Thr)	PSORS1C1, PSORS1C2 (P24T)	Single nucleotide variant (missense variant +1 more)	PSORS1C1-related disorder	GBenign
Select item 3056342	NM_014068.3(PSORS1C1):c.100G>A (p.Glu34Lys)	PSORS1C1, PSORS1C2 (E34K)	Single nucleotide variant (missense variant +1 more)	PSORS1C1-related disorder	GBenign
Select item 3220523	NM_014068.3(PSORS1C1):c.109C>T (p.Arg37Cys)	PSORS1C1, PSORS1C2 (R37C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3059106	NM_014068.3(PSORS1C1):c.110G>A (p.Arg37His)	PSORS1C1, PSORS1C2 (R37H)	Single nucleotide variant (missense variant +1 more)	PSORS1C1-related disorder	GBenign
Select item 3059976	NM_014068.3(PSORS1C1):c.127C>T (p.Pro43Ser)	PSORS1C1, PSORS1C2 (P43S)	Single nucleotide variant (missense variant +1 more)	PSORS1C1-related disorder	GBenign
Select item 2408342	NM_014068.3(PSORS1C1):c.134G>T (p.Arg45Leu)	PSORS1C1, PSORS1C2 (R45L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 784067	NM_014068.3(PSORS1C1):c.134G>A (p.Arg45Gln)	PSORS1C1, PSORS1C2 (R45Q)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
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 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 221339	Single allele	CCHCR1, CDSN +6 more	Complex	Breast ductal adenocarcinoma	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 24