popul _content_hgnc_gene_symbol - ClinVar

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Items: 34

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 228670	NM_031475.3(ESPN):c.337C>T (p.Arg113Cys)	ESPN (R113C)	Single nucleotide variant (missense variant)	Retinal dystrophy +2 more	GUncertain significance
Select item 48046	NM_170707.4(LMNA):c.1621C>T (p.Arg541Cys)	LMNA (R541C +2 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 2 +5 more	GPathogenic/Likely pathogenic
Select item 229628	NM_206933.4(USH2A):c.8845+6_8845+9del	USH2A	Microsatellite (splice donor variant)	Retinitis pigmentosa 39 +3 more	GUncertain significance
Select item 166533	NM_206933.4(USH2A):c.485+12T>C	USH2A	Single nucleotide variant (intron variant)	Usher syndrome type 2A +4 more	GConflicting classifications of pathogenicity
Select item 43838	NM_001035.3(RYR2):c.9450-3T>C	RYR2	Single nucleotide variant (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 40654	NM_005633.4(SOS1):c.512T>G (p.Val171Gly)	SOS1 (V171G +1 more)	Single nucleotide variant (missense variant)	RASopathy +3 more	GConflicting classifications of pathogenicity
Select item 667011	NM_000179.3(MSH6):c.3920_3923dup (p.Pro1309fs)	MSH6 (P1007fs +2 more)	Duplication (frameshift variant)	Lynch syndrome 5 +3 more	GPathogenic/Likely pathogenic
Select item 178854	NM_001267550.2(TTN):c.105562A>C (p.Ile35188Leu)	TTN-AS1, LOC129935184 +1 more (I32620L +5 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 47526	NM_001267550.2(TTN):c.92561T>C (p.Ile30854Thr)	TTN, TTN-AS1 (I30854T +5 more)	Single nucleotide variant (missense variant)	not provided +7 more	GUncertain significance
Select item 47426	NM_001267550.2(TTN):c.83543T>C (p.Ile27848Thr)	TTN, TTN-AS1 (I27848T +5 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 178853	NM_001267550.2(TTN):c.60314T>G (p.Val20105Gly)	TTN, TTN-AS1 (V17537G +5 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 47075	NM_001267550.2(TTN):c.53260T>C (p.Phe17754Leu)	LOC126806425, TTN +1 more (F17754L +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +8 more	GConflicting classifications of pathogenicity
Select item 178823	NM_001267550.2(TTN):c.39296-4A>G	TTN	Single nucleotide variant (intron variant)	not specified +2 more	GLikely benign
Select item 41633	NM_000249.4(MLH1):c.1166G>A (p.Arg389Gln)	MLH1 (R389Q +5 more)	Single nucleotide variant (missense variant)	Colorectal cancer, hereditary nonpolyposis, type 2 +6 more	GConflicting classifications of pathogenicity
Select item 162859	NM_178335.3(CCDC50):c.1144G>A (p.Ala382Thr)	CCDC50 (A382T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 45443	NM_006005.3(WFS1):c.1886G>A (p.Arg629Gln)	WFS1 (R629Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +8 more	GConflicting classifications of pathogenicity
Select item 46355	NM_032119.4(ADGRV1):c.6676G>A (p.Glu2226Lys)	ADGRV1 (E2226K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 48338	NM_206883.2(SLC26A5):c.292+8_292+9dup	SLC26A5	Duplication (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 44810	NM_004333.6(BRAF):c.1720C>T (p.His574Tyr)	BRAF (H574Y +7 more)	Single nucleotide variant (missense variant)	Cardio-facio-cutaneous syndrome	GPathogenic
Select item 666833	NM_000503.6(EYA1):c.470C>T (p.Ser157Leu)	EYA1 (S151L +5 more)	Single nucleotide variant (missense variant)	Melnick-Fraser syndrome +1 more	GUncertain significance
Select item 163650	NM_024915.4(GRHL2):c.1690A>T (p.Met564Leu)	GRHL2 (M564L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 517615	NM_022124.6(CDH23):c.1134+53C>A	CDH23 (P396Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 200891	NM_000218.3(KCNQ1):c.403del (p.Val135fs)	KCNQ1 (V135fs +1 more)	Deletion (frameshift variant)	Congenital long QT syndrome +3 more	GPathogenic/Likely pathogenic
Select item 42791	NM_000256.3(MYBPC3):c.821+1G>A	MYBPC3	Single nucleotide variant (splice donor variant)	Left ventricular noncompaction 10 +9 more	GPathogenic
Select item 228380	NC_000011.10:g.77207391_77207401del	MYO7A (I1911fs +2 more)	Deletion	Rare genetic deafness	GPathogenic
Select item 440456	NM_000059.4(BRCA2):c.4103del (p.Leu1368fs)	BRCA2 (L1368fs)	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 49932	NM_000548.5(TSC2):c.871dup (p.Leu291fs)	TSC2 (L91fs +4 more)	Duplication (frameshift variant)	Tuberous sclerosis syndrome	GPathogenic
Select item 506193	NM_001199107.2(TBC1D24):c.1576C>T (p.Arg526Cys)	TBC1D24 (R526C +1 more)	Single nucleotide variant (missense variant)	Caused by mutation in the TBC1 domain family, member 24 +3 more	GUncertain significance
Select item 228970	NM_016239.4(MYO15A):c.869A>G (p.Tyr290Cys)	MYO15A (Y290C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 266306	NM_007294.4(BRCA1):c.2823del (p.Asn941fs)	BRCA1 (N894fs +20 more)	Deletion (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 440454	NM_007294.4(BRCA1):c.2090del (p.Phe697fs)	BRCA1 (F650fs +20 more)	Deletion (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 228824	NM_001384474.1(LOXHD1):c.3941C>T (p.Thr1314Ile)	LOXHD1 (T1314I +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 77 +2 more	GConflicting classifications of pathogenicity
Select item 251437	NM_000527.5(LDLR):c.761A>C (p.Gln254Pro)	LDLR (Q254P +2 more)	Single nucleotide variant (missense variant +1 more)	Dyslipidemia +5 more	GPathogenic/Likely pathogenic
Select item 329949	NM_001145809.2(MYH14):c.5599C>T (p.Arg1867Cys)	MYH14 (R1867C +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity

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Items: 34