"Ambry Genetics"[submitter] AND "PIN4"[gene] - ClinVar

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

Search results

Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2228494	NM_006223.3(PIN4):c.34C>G (p.Arg12Gly)	PIN4 (R12G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2494039	NM_006223.4(PIN4):c.-21G>C	PIN4 (V19L)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2206428	NM_006223.4(PIN4):c.13G>A (p.Gly5Arg)	LOC130068434, PIN4 (G30R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2496274	NM_006223.4(PIN4):c.34G>A (p.Ala12Thr)	LOC130068434, PIN4 (A37T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2281522	NM_006223.4(PIN4):c.278C>A (p.Pro93Gln)	PIN4 (P93Q)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2623885	NM_006223.4(PIN4):c.346G>A (p.Val116Ile)	PIN4 (V116I)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2591669	NM_017669.4(ERCC6L):c.3700C>T (p.Pro1234Ser)	ERCC6L, PIN4 (P1111S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2482991	NM_017669.4(ERCC6L):c.3156A>T (p.Gln1052His)	ERCC6L, PIN4 (Q1052H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2482269	NM_017669.4(ERCC6L):c.2825C>A (p.Pro942His)	ERCC6L, PIN4 (P819H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2477331	NM_017669.4(ERCC6L):c.2710G>C (p.Glu904Gln)	ERCC6L, PIN4 (E781Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2315935	NM_017669.4(ERCC6L):c.2686T>G (p.Trp896Gly)	ERCC6L, PIN4 (W773G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2388578	NM_017669.4(ERCC6L):c.2659G>A (p.Asp887Asn)	ERCC6L, PIN4 (D764N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2320585	NM_017669.4(ERCC6L):c.2536G>C (p.Glu846Gln)	ERCC6L, PIN4 (E723Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2270566	NM_017669.4(ERCC6L):c.2330T>C (p.Ile777Thr)	ERCC6L, PIN4 (I654T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2303518	NM_017669.4(ERCC6L):c.2317G>A (p.Ala773Thr)	ERCC6L, PIN4 (A650T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2392083	NM_017669.4(ERCC6L):c.2258A>G (p.Gln753Arg)	ERCC6L, PIN4 (Q753R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2376842	NM_017669.4(ERCC6L):c.1837A>G (p.Lys613Glu)	ERCC6L, PIN4 (K490E +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2223012	NM_017669.4(ERCC6L):c.1795G>C (p.Val599Leu)	ERCC6L, PIN4 (V476L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2469589	NM_017669.4(ERCC6L):c.1537C>T (p.Leu513Phe)	ERCC6L, PIN4 (L390F +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2371919	NM_017669.4(ERCC6L):c.1454C>T (p.Ser485Leu)	ERCC6L, PIN4 (S362L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2266232	NM_017669.4(ERCC6L):c.1354G>A (p.Asp452Asn)	ERCC6L, PIN4 (D329N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2308493	NM_017669.4(ERCC6L):c.830G>C (p.Gly277Ala)	ERCC6L, PIN4 (G277A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2618463	NM_017669.4(ERCC6L):c.739A>G (p.Ile247Val)	ERCC6L, PIN4 (I124V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2363190	NM_017669.4(ERCC6L):c.734G>A (p.Arg245His)	ERCC6L, PIN4 (R122H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2524720	NM_017669.4(ERCC6L):c.214G>A (p.Glu72Lys)	ERCC6L, PIN4 (E72K)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2305251	NM_017669.4(ERCC6L):c.148A>G (p.Ile50Val)	ERCC6L, PIN4 (I50V)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	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: 26