INTS14[gene] - ClinVar

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057927, LOC130057928 +1764 more	Copy number gain	See cases	GPathogenic
Select item 58573	GRCh38/hg38 15q22.31(chr15:64448836-65975439)x3	ANKDD1A, CILP +97 more	Copy number gain	See cases	GPathogenic
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 3286215	NM_001394796.1(INTS14):c.853G>A (p.Val285Met)	INTS14 (V235M +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
Select item 1684811	NC_000015.10:g.65611127GGCATAAACTTTCCGTC[3]	INTS14, LOC130057324	Microsatellite	not specified	GUncertain significance
Select item 3110146	NM_001394796.1(INTS14):c.-88G>T	INTS14, LOC130057324	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 2511047	NM_001394796.1(INTS14):c.-92C>G	INTS14, LOC130057324	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 3110139	NM_001207058.1(INTS14):c.11A>G (p.Glu4Gly)	INTS14, LOC130057324 (E4G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286216	NM_001207058.1(INTS14):c.4C>G (p.Pro2Ala)	INTS14, LOC130057324 (P2A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	CGNL1, MAPDA +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 560063	Single allele	ANKDD1A, APH1B +40 more	Deletion	Nemaline myopathy 6	GLikely pathogenic
Select item 560049	Single allele	PDIA3, PEAK1 +521 more	Duplication	not provided	GPathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	NOX5, NPAP1 +559 more	Copy number gain	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	CHRFAM7A, CHRM5 +566 more	Copy number gain	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	ALDH1A2, ALDH1A3 +444 more	Copy number gain	See cases	GPathogenic
Select item 369835	GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3	WHAMM, CCNB2 +308 more	Copy number gain	not provided	GLikely pathogenic
Select item 253516	GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3	AAGAB, ABHD17C +278 more	Copy number gain	See cases	GPathogenic

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Items: 39