716[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 619591	NC_000012.12:g.(1_3750000)_(5250000_9000000)del	GAPDH, GAU1 +477 more	Deletion	Tumoral calcinosis, hyperphosphatemic, familial, 1	Gnot provided
Select item 151004	GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4	TAS2R9, TEAD4 +1258 more	Copy number gain	See cases	GPathogenic
Select item 153962	GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4	CLEC12A, CLEC12A-AS1 +1258 more	Copy number gain	See cases	GPathogenic
Select item 59794	GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3	LOC126861410, LOC126861411 +1258 more	Copy number gain	See cases	GPathogenic
Select item 59795	GRCh38/hg38 12p13.33-12.1(chr12:80412-25470329)x3	A2M, A2M-AS1 +1009 more	Copy number gain	See cases	GPathogenic
Select item 147419	GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3	LOC130007230, LOC130007231 +1257 more	Copy number gain	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 150158	GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3	LOC126861494, LOC126861495 +1257 more	Copy number gain	See cases	GPathogenic
Select item 59799	GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4	CACNA1C-AS2, CACNA1C-AS4 +1242 more	Copy number gain	See cases	GPathogenic
Select item 153563	GRCh38/hg38 12p13.33-12.2(chr12:1258274-20657577)x3	A2M, A2M-AS1 +853 more	Copy number gain	See cases	GPathogenic
Select item 148626	GRCh38/hg38 12p13.33-12.3(chr12:2871741-14987348)x3	LOC130007190, LOC130007191 +698 more	Copy number gain	See cases	GPathogenic
Select item 58985	GRCh38/hg38 12p13.31(chr12:6728665-7705620)x1	LOC130007275, LOC130007276 +97 more	Copy number loss	See cases	GPathogenic
Select item 152931	GRCh38/hg38 12p13.31(chr12:7055795-7428473)x3	ACSM4, C1R +18 more	Copy number gain	See cases	GUncertain significance
Select item 2664003	NM_001734.5(C1S):c.2T>C (p.Met1Thr)	C1S (M1T)	Single nucleotide variant (5 prime UTR variant +2 more)	Ehlers-Danlos syndrome, periodontal type 2	GLikely pathogenic
Select item 2920214	NM_001734.5(C1S):c.5+5G>A	C1S	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2869433	NM_001734.5(C1S):c.5+8A>G	C1S	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2814408	NM_001734.5(C1S):c.5+13G>A	C1S	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1273754	NM_001734.5(C1S):c.5+141C>T	C1S	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282313	NM_001734.5(C1S):c.5+204dup	C1S	Duplication (intron variant)	not provided	GBenign
Select item 1247086	NM_001734.5(C1S):c.6-193_6-189dup	C1S	Duplication (intron variant)	not provided	GBenign
Select item 1277281	NM_001734.5(C1S):c.6-118C>T	C1S	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2102869	NM_001734.5(C1S):c.6-20C>T	C1S	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2970448	NM_001734.5(C1S):c.6-10_6-9del	C1S	Deletion (intron variant)	not provided	GLikely benign
Select item 1718587	NM_001734.5(C1S):c.8G>T (p.Cys3Phe)	C1S (C3F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2976593	NM_001734.5(C1S):c.25C>T (p.Leu9Phe)	C1S (L9F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1369281	NM_001734.5(C1S):c.31_32delinsTT (p.Ala11Leu)	C1S (A11L)	Indel (missense variant +1 more)	not provided	GUncertain significance
Select item 1155296	NM_001734.5(C1S):c.31G>T (p.Ala11Ser)	C1S (A11S)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1087102	NM_001734.5(C1S):c.32C>T (p.Ala11Val)	C1S (A11V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 827599	NM_001734.5(C1S):c.34T>C (p.Trp12Arg)	C1S (W12R)	Single nucleotide variant (missense variant +1 more)	Hereditary angioedema with normal C1Inh	Gnot provided
Select item 2831902	NM_001734.5(C1S):c.37G>T (p.Val13Phe)	C1S (V13F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1975110	NM_001734.5(C1S):c.40T>C (p.Tyr14His)	C1S (Y14H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3135831	NM_001734.5(C1S):c.47A>T (p.Glu16Val)	C1S (E16V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1898051	NM_001734.5(C1S):c.48G>A (p.Glu16=)	C1S	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2977442	NM_001734.5(C1S):c.54C>G (p.Thr18=)	C1S	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1543521	NM_001734.5(C1S):c.54C>A (p.Thr18=)	C1S	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2181699	NM_001734.5(C1S):c.55A>G (p.Met19Val)	C1S (M19V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1516857	NM_001734.5(C1S):c.56T>C (p.Met19Thr)	C1S (M19T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 871277	NM_001734.5(C1S):c.57G>A (p.Met19Ile)	C1S (M19I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1364866	NM_001734.5(C1S):c.62G>A (p.Gly21Glu)	C1S (G21E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2828953	NM_001734.5(C1S):c.76C>T (p.Pro26Ser)	C1S (P26S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2819067	NM_001734.5(C1S):c.80del (p.Asn27fs)	C1S (N27fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2969640	NM_001734.5(C1S):c.80A>G (p.Asn27Ser)	C1S (N27S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1944452	NM_001734.5(C1S):c.83A>C (p.Tyr28Ser)	C1S (Y28S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2766089	NM_001734.5(C1S):c.86C>A (p.Pro29His)	C1S (P29H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1497579	NM_001734.5(C1S):c.86C>G (p.Pro29Arg)	C1S (P29R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2895205	NM_001734.5(C1S):c.88C>G (p.Gln30Glu)	C1S (Q30E)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2127480	NM_001734.5(C1S):c.91G>A (p.Ala31Thr)	C1S (A31T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 806820	NM_001734.5(C1S):c.100A>G (p.Ser34Gly)	C1S (S34G)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1523330	NM_001734.5(C1S):c.106G>C (p.Val36Leu)	C1S (V36L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1105305	NM_001734.5(C1S):c.124A>G (p.Ile42Val)	C1S (I42V)	Single nucleotide variant (missense variant +1 more)	Ehlers-Danlos syndrome, periodontal type 2 +2 more	GConflicting classifications of pathogenicity
Select item 1920445	NM_001734.5(C1S):c.163A>G (p.Thr55Ala)	C1S (T55A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3003284	NM_001734.5(C1S):c.176T>C (p.Ile59Thr)	C1S (I59T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2192300	NM_001734.5(C1S):c.181C>T (p.Leu61=)	C1S	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 806821	NM_001734.5(C1S):c.192C>T (p.Asn64=)	C1S	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 750714	NM_001734.5(C1S):c.198G>A (p.Ala66=)	C1S	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2805136	NM_001734.5(C1S):c.200A>G (p.Tyr67Cys)	C1S (Y67C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1450168	NM_001734.5(C1S):c.204C>G (p.Asp68Glu)	C1S (D68E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2863263	NM_001734.5(C1S):c.211_212del (p.Gln71fs)	C1S (Q71fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2990102	NM_001734.5(C1S):c.213+1G>A	C1S	Single nucleotide variant (splice donor variant +1 more)	not provided	GLikely pathogenic
Select item 1399645	NM_001734.5(C1S):c.213+4T>C	C1S	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1989689	NM_001734.5(C1S):c.213+17A>G	C1S	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2808831	NM_001734.5(C1S):c.214-18T>C	C1S	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1938571	NM_001734.5(C1S):c.214-18T>G	C1S	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1168864	NM_001734.5(C1S):c.214-17T>G	C1S	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2094253	NM_001734.5(C1S):c.214-14G>A	C1S	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1902675	NM_001734.5(C1S):c.214-14G>C	C1S	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2955795	NM_001734.5(C1S):c.214-7_214-3del	C1S	Microsatellite (intron variant)	not provided	GUncertain significance
Select item 3015435	NM_001734.5(C1S):c.214-4T>G	C1S	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2108776	NM_001734.5(C1S):c.224G>A (p.Gly75Glu)	C1S (G75E)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2122564	NM_001734.5(C1S):c.230C>T (p.Thr77Ile)	C1S (T77I)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2696183	NM_001734.5(C1S):c.241_242dup (p.Leu82fs)	C1S (L82fs)	Duplication (5 prime UTR variant +1 more)	not provided	GPathogenic
Select item 2106499	NM_001734.5(C1S):c.246C>G (p.Leu82=)	C1S	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2788905	NM_001734.5(C1S):c.251G>A (p.Gly84Glu)	C1S (G84E)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1968184	NM_001734.5(C1S):c.259A>T (p.Ser87Cys)	C1S (S87C)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1999070	NM_001734.5(C1S):c.260G>A (p.Ser87Asn)	C1S (S87N)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2415712	NM_001734.5(C1S):c.265A>G (p.Asn89Asp)	C1S (N89D)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2077713	NM_001734.5(C1S):c.269A>G (p.Asn90Ser)	C1S (N90S)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1361566	NM_001734.5(C1S):c.274C>T (p.His92Tyr)	C1S (H92Y)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2288955	NM_001734.5(C1S):c.276C>A (p.His92Gln)	C1S (H92Q)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1959831	NM_001734.5(C1S):c.283A>G (p.Ile95Val)	C1S (I95V)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1156867	NM_001734.5(C1S):c.306A>G (p.Pro102=)	C1S	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2131837	NM_001734.5(C1S):c.309C>A (p.Tyr103Ter)	C1S (Y103*)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GPathogenic
Select item 3336211	NM_001734.5(C1S):c.343del (p.Ser115fs)	C1S (S115fs)	Deletion (5 prime UTR variant +1 more)	Complement component C1s deficiency	GPathogenic
Select item 2145641	NM_001734.5(C1S):c.344C>T (p.Ser115Phe)	C1S (S115F)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2086561	NM_001734.5(C1S):c.346A>G (p.Asn116Asp)	C1S (N116D)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1499802	NM_001734.5(C1S):c.347A>G (p.Asn116Ser)	C1S (N116S)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1655725	NM_001734.5(C1S):c.351A>G (p.Glu117=)	C1S	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2898810	NM_001734.5(C1S):c.355C>T (p.Arg119Cys)	C1S (R119C)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1170123	NM_001734.5(C1S):c.356G>A (p.Arg119His)	C1S (R119H)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 2182158	NM_001734.5(C1S):c.362C>T (p.Thr121Met)	C1S (T121M)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2977664	NM_001734.5(C1S):c.363G>A (p.Thr121=)	C1S	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2836855	NM_001734.5(C1S):c.370G>A (p.Ala124Thr)	C1S (A124T)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2026821	NM_001734.5(C1S):c.372T>C (p.Ala124=)	C1S	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2573069	NM_001734.5(C1S):c.380A>G (p.Tyr127Cys)	C1S (Y127C)	Single nucleotide variant (5 prime UTR variant +1 more)	Ehlers-Danlos syndrome, periodontal type 2	GUncertain significance
Select item 1606289	NM_001734.5(C1S):c.381T>C (p.Tyr127=)	C1S	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2842943	NM_001734.5(C1S):c.385G>T (p.Ala129Ser)	C1S (A129S)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2607275	NM_001734.5(C1S):c.389C>T (p.Thr130Ile)	C1S (T130I)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1655156	NM_001734.5(C1S):c.391+7C>T	C1S	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1584260	NM_001734.5(C1S):c.391+9C>T	C1S	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3006482	NM_001734.5(C1S):c.391+11C>T	C1S	Single nucleotide variant (intron variant)	not provided	GLikely benign

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