"GeneDx"[submitter] AND "PROC"[gene] - ClinVar

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

Search results

Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60185	GRCh38/hg38 2q14.3(chr2:121824798-128870804)x1	AMMECR1L, BIN1 +121 more	Copy number loss	See cases	GPathogenic
Select item 60186	GRCh38/hg38 2q14.3(chr2:122324343-128371704)x1	LOC115945190, LOC120961783 +101 more	Copy number loss	See cases	GPathogenic
Select item 546153	NM_000312.3(PROC):c.-97_-91delGTTATGG	PROC	Deletion	not provided	GLikely pathogenic
Select item 1220858	NM_000312.4(PROC):c.-21-121C>T	PROC	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 469121	NM_000312.4(PROC):c.30C>T (p.Phe10=)	PROC (S50L)	Single nucleotide variant (synonymous variant +2 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 188230	NM_000312.4(PROC):c.169C>T (p.Arg57Trp)	PROC (R57W +5 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1252539	NM_000312.4(PROC):c.237+301G>A	PROC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245987	NM_000312.4(PROC):c.238-272A>G	PROC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3253048	NM_000312.4(PROC):c.329C>T (p.Thr110Met)	PROC (R162C +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1303182	NM_000312.4(PROC):c.329C>G (p.Thr110Arg)	PROC (R162G +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 255809	NM_000312.4(PROC):c.423G>T (p.Ser141=)	PROC	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign
Select item 1260347	NM_000312.4(PROC):c.535+44A>G	PROC	Single nucleotide variant (intron variant)	Thrombophilia due to protein C deficiency, autosomal dominant +2 more	GBenign
Select item 1248905	NM_000312.4(PROC):c.536-316G>C	PROC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270693	NM_000312.4(PROC):c.536-214A>G	PROC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227581	NM_000312.4(PROC):c.678+111G>T	PROC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1303186	NM_000312.4(PROC):c.713G>C (p.Cys238Ser)	PROC (C219S +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1800728	NM_000312.4(PROC):c.728T>C (p.Ile243Thr)	PROC (I224T +9 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein C deficiency, autosomal dominant +1 more	GUncertain significance
Select item 255810	NM_000312.4(PROC):c.768T>C (p.Asp256=)	PROC	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 1241380	NM_000312.4(PROC):c.797-345T>G	PROC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249524	NM_000312.4(PROC):c.797-245T>C	PROC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 536970	NM_000312.4(PROC):c.811C>T (p.Arg271Trp)	PROC (R271W +9 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein C deficiency, autosomal dominant +2 more	GConflicting classifications of pathogenicity
Select item 660	NM_000312.4(PROC):c.902C>T (p.Ala301Val)	PROC (A301V +9 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3340421	NM_000312.4(PROC):c.1075G>T (p.Val359Phe)	PROC (V340F +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1330282	NM_000312.4(PROC):c.1154T>C (p.Met385Thr)	PROC (M366T +9 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein C deficiency, autosomal dominant +1 more	GConflicting classifications of pathogenicity
Select item 934521	NM_000312.4(PROC):c.1155G>A (p.Met385Ile)	PROC (M447I +9 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2577707	NM_000312.4(PROC):c.1207G>A (p.Gly403Arg)	PROC (G384R +9 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 546154	NM_000312.4(PROC):c.1216A>G (p.Met406Val)	PROC (M406V +9 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic/Likely pathogenic
Select item 2573786	NM_000312.4(PROC):c.1262G>A (p.Ser421Asn)	PROC (S402N +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360092	NM_000312.4(PROC):c.830A>G (p.Glu277Gly)	PROC (E258G +9 more)	Single nucleotide variant (missense variant)	not provided	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: 29