INTS14[gene] and "single gene"[properties] - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3110143	NM_001394796.1(INTS14):c.1538G>A (p.Ser513Asn)	INTS14 (S463N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615437	NM_001394796.1(INTS14):c.1514C>T (p.Pro505Leu)	INTS14 (P426L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110142	NM_001394796.1(INTS14):c.1503G>C (p.Gln501His)	INTS14 (Q501H +4 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3110141	NM_001394796.1(INTS14):c.1492G>A (p.Ala498Thr)	INTS14 (A419T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110140	NM_001394796.1(INTS14):c.1386G>T (p.Arg462Ser)	INTS14 (R462S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590008	NM_001394796.1(INTS14):c.1322G>A (p.Arg441Gln)	INTS14 (R362Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465108	NM_001394796.1(INTS14):c.1231G>A (p.Gly411Ser)	INTS14 (G375S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110138	NM_001394796.1(INTS14):c.1190G>A (p.Arg397His)	INTS14 (R397H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110136	NM_001394796.1(INTS14):c.1181A>G (p.Lys394Arg)	INTS14 (K315R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110135	NM_001394796.1(INTS14):c.1073A>G (p.Glu358Gly)	INTS14 (E279G +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525667	NM_001394796.1(INTS14):c.988C>T (p.Pro330Ser)	INTS14 (P280S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110151	NM_001394796.1(INTS14):c.857G>A (p.Gly286Asp)	INTS14 (G250D +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110150	NM_001394796.1(INTS14):c.817G>C (p.Val273Leu)	INTS14 (V224L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110149	NM_001394796.1(INTS14):c.733A>G (p.Lys245Glu)	INTS14 (K196E +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110148	NM_001394796.1(INTS14):c.719T>C (p.Ile240Thr)	INTS14 (I191T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110147	NM_001394796.1(INTS14):c.629C>T (p.Thr210Met)	INTS14 (T161M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495495	NM_001394796.1(INTS14):c.290A>G (p.Asn97Ser)	INTS14 (N133S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110144	NM_001394796.1(INTS14):c.229C>G (p.Leu77Val)	INTS14 (L28V +2 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2465189	NM_001394796.1(INTS14):c.227C>G (p.Ala76Gly)	INTS14 (A112G +2 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3110137	NM_001394796.1(INTS14):c.16G>A (p.Val6Ile)	INTS14 (V42I +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2553324	NM_001394796.1(INTS14):c.-2T>C	INTS14 (I36T)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2517871	NM_001394796.1(INTS14):c.-26T>C	INTS14 (I28T)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance

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Items: 22