"PROC-related disorder"[Disease/phenotype] AND "PreventionGenetics, pa - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3051025	NC_000002.12:g.127418399G>A	PROC	Single nucleotide variant	PROC-related disorder	GLikely benign
Select item 2714995	NC_000002.12:g.127418412T>C	PROC	Single nucleotide variant	PROC-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 3037389	NM_000312.4(PROC):c.-51G>A	PROC (R6Q)	Single nucleotide variant (5 prime UTR variant +1 more)	PROC-related disorder	GLikely benign
Select item 331100	NM_000312.4(PROC):c.-33C>T	PROC (T12M)	Single nucleotide variant (5 prime UTR variant +1 more)	Thrombophilia due to protein C deficiency, autosomal dominant +1 more	GBenign/Likely benign
Select item 3043186	NM_000312.4(PROC):c.-32G>A	PROC	Single nucleotide variant (5 prime UTR variant +1 more)	PROC-related disorder	GLikely benign
Select item 469121	NM_000312.4(PROC):c.30C>T (p.Phe10=)	PROC (S50L)	Single nucleotide variant (synonymous variant +2 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1043032	NM_000312.4(PROC):c.118C>T (p.Arg40Cys)	PROC (R40C +5 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein C deficiency, autosomal dominant +1 more	GUncertain significance
Select item 1330289	NM_000312.4(PROC):c.127G>A (p.Ala43Thr)	PROC (A104T +5 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein C deficiency, autosomal dominant +1 more	GConflicting classifications of pathogenicity
Select item 664	NM_000312.4(PROC):c.185A>C (p.Glu62Ala)	PROC (E62A +5 more)	Single nucleotide variant (missense variant)	PROC-related disorder	GPathogenic
Select item 2955006	NM_000312.4(PROC):c.237+15G>A	PROC	Single nucleotide variant (intron variant)	PROC-related disorder +1 more	GLikely benign
Select item 2039341	NM_000312.4(PROC):c.263-14G>T	PROC (R135L)	Single nucleotide variant (missense variant +1 more)	Thrombophilia due to protein C deficiency, autosomal dominant +1 more	GBenign/Likely benign
Select item 3050939	NM_000312.4(PROC):c.288C>T (p.Pro96=)	PROC (P148L)	Single nucleotide variant (synonymous variant +1 more)	PROC-related disorder	GLikely benign
Select item 627207	NM_000312.4(PROC):c.386G>A (p.Arg129His)	PROC (R129H +6 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein C deficiency, autosomal recessive +5 more	GUncertain significance
Select item 331103	NM_000312.4(PROC):c.399C>T (p.Arg133=)	PROC (A185V)	Single nucleotide variant (synonymous variant +1 more)	Thrombophilia due to protein C deficiency, autosomal dominant +1 more	GBenign/Likely benign
Select item 2634133	NM_000312.4(PROC):c.425T>C (p.Leu142Pro)	PROC (L134P +8 more)	Single nucleotide variant (missense variant +1 more)	PROC-related disorder	GUncertain significance
Select item 2634733	NM_000312.4(PROC):c.432_435delinsA (p.Asn144_Gly145delinsLys)	PROC	Indel (inframe_indel +1 more)	PROC-related disorder	GUncertain significance
Select item 695220	NM_000312.4(PROC):c.462G>A (p.Glu154=)	PROC	Single nucleotide variant (synonymous variant)	Thrombophilia due to protein C deficiency, autosomal dominant +1 more	GLikely benign
Select item 536972	NM_000312.4(PROC):c.536-6C>T	PROC	Single nucleotide variant (intron variant)	Thrombophilia due to protein C deficiency, autosomal dominant +1 more	GBenign
Select item 3061365	NM_000312.4(PROC):c.556C>T (p.Pro186Ser)	PROC (P167S +9 more)	Single nucleotide variant (missense variant)	PROC-related disorder	GUncertain significance
Select item 2637220	NM_000312.4(PROC):c.679-2A>G	PROC	Single nucleotide variant (splice acceptor variant)	PROC-related disorder	GLikely pathogenic
Select item 2203148	NM_000312.4(PROC):c.965A>G (p.Asp322Gly)	PROC (D303G +9 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein C deficiency, autosomal dominant +1 more	GUncertain significance
Select item 698077	NM_000312.4(PROC):c.1111A>G (p.Asn371Asp)	PROC (N352D +9 more)	Single nucleotide variant (missense variant)	PROC-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 1911290	NM_000312.4(PROC):c.1179C>T (p.Asp393=)	PROC	Single nucleotide variant (synonymous variant)	Thrombophilia due to protein C deficiency, autosomal dominant +1 more	GLikely benign
Select item 706791	NM_000312.4(PROC):c.1326C>T (p.Leu442=)	PROC	Single nucleotide variant (synonymous variant)	PROC-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 3058328	NM_000312.4(PROC):c.*78del	PROC	Deletion (3 prime UTR variant)	PROC-related disorder	GLikely benign

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Items: 25