2218[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124210612, LOC124210613 +3786 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC121331326, LOC121331327 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860737, LOC126860738 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC110121197, LOC110121234 +3786 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC121331342, LOC121331343 +3786 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC113839542, LOC113839543 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC130002189, LOC130002190 +3786 more	Copy number gain	See cases	GPathogenic
Select item 147624	GRCh38/hg38 9q21.11-31.2(chr9:68420430-106579493)x3	ABCA1, ABHD17B +1072 more	Copy number gain	See cases	GPathogenic
Select item 151006	GRCh38/hg38 9q21.12-31.3(chr9:69627642-111454304)x3	ABCA1, ABHD17B +1188 more	Copy number gain	See cases	GPathogenic
Select item 59881	GRCh38/hg38 9q22.1-32(chr9:88522292-113687796)x3	LOC130002218, LOC130002219 +994 more	Copy number gain	See cases	GPathogenic
Select item 144971	GRCh38/hg38 9q22.32-31.3(chr9:95061030-108695569)x1	LOC130002205, LOC130002206 +417 more	Copy number loss	See cases	GPathogenic
Select item 149230	GRCh38/hg38 9q22.33-31.3(chr9:99024205-109947890)x1	ABCA1, ABITRAM +253 more	Copy number loss	See cases	GPathogenic
Select item 161058	GRCh38/hg38 9q22.33-33.1(chr9:99138048-115011033)x1	LOC126860732, LOC126860733 +514 more	Copy number loss	See cases	GPathogenic
Select item 32222	GRCh38/hg38 9q22.33-33.1(chr9:99138048-115011033)x1	ABCA1, ABITRAM +514 more	Copy number loss	See cases	GPathogenic
Select item 59123	GRCh38/hg38 9q22.33-33.1(chr9:99349916-115767475)x1	CT70, CTNNAL1 +509 more	Copy number loss	See cases	GPathogenic
Select item 2579281	GRCh38/hg38 9q31.1-31.3(chr9:102995214-108903040)x1	LOC130002266, LOC130002267 +109 more	Copy number loss	Weiss-Kruszka syndrome	GPathogenic
Select item 145648	GRCh38/hg38 9q31.1-32(chr9:103767420-112984794)x1	ABCA1, ABITRAM +310 more	Copy number loss	See cases	GPathogenic
Select item 155197	GRCh38/hg38 9q31.1-31.2(chr9:104036284-105935181)x3	ABCA1, CT70 +58 more	Copy number gain	See cases	GUncertain significance
Select item 152170	GRCh38/hg38 9q31.1-31.2(chr9:104810184-107473921)x3	ABCA1, CT70 +56 more	Copy number gain	See cases	GUncertain significance
Select item 583945	NC_000009.12:g.(?_105546358)_(105620061_?)del	LOC130002287, FKTN +3 more	Deletion	Walker-Warburg congenital muscular dystrophy	GPathogenic
Select item 681572	NM_001079802.2(FKTN):c.-199C>T	FKTN, FKTN-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 162565	NM_001079802.2(FKTN):c.-191del	FKTN, FKTN-AS1	Deletion (5 prime UTR variant +1 more)	not specified	GBenign
Select item 553589	NM_001079802.2(FKTN):c.-181+1G>C	FKTN, FKTN-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4	GUncertain significance
Select item 364483	NM_001079802.2(FKTN):c.-181+1G>T	FKTN, FKTN-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 +4 more	GUncertain significance
Select item 1186214	NM_001079802.2(FKTN):c.-181+40T>A	FKTN-AS1, FKTN +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1217694	NM_001079802.2(FKTN):c.-180-242T>C	FKTN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1201848	NM_001079802.2(FKTN):c.-180-228C>T	FKTN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1182155	NM_001079802.2(FKTN):c.-180-105T>C	FKTN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1326672	NM_001079802.2(FKTN):c.-180-102G>T	FKTN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1209079	NM_001079802.2(FKTN):c.-180-102G>A	FKTN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1326837	NM_001079802.2(FKTN):c.-180-101G>C	FKTN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1249258	NM_001079802.2(FKTN):c.-180-15dup	FKTN	Duplication (intron variant)	not provided	GBenign
Select item 1212618	NM_001079802.2(FKTN):c.-180-15del	FKTN	Deletion (intron variant)	not provided	GLikely benign
Select item 364484	NM_001079802.2(FKTN):c.-158G>C	FKTN	Single nucleotide variant (5 prime UTR variant +2 more)	Dilated cardiomyopathy 1X +2 more	GBenign/Likely benign
Select item 364485	NM_001079802.2(FKTN):c.-136A>G	FKTN	Single nucleotide variant (5 prime UTR variant +2 more)	Dilated cardiomyopathy 1X +1 more	GUncertain significance
Select item 913908	NM_001079802.2(FKTN):c.-114G>A	FKTN	Single nucleotide variant (5 prime UTR variant +2 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 +1 more	GUncertain significance
Select item 137382	NM_001079802.2(FKTN):c.-108A>T	FKTN	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GBenign
Select item 364486	NM_001079802.2(FKTN):c.-96T>C	FKTN	Single nucleotide variant (5 prime UTR variant +2 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 +2 more	GConflicting classifications of pathogenicity
Select item 162563	NM_001079802.2(FKTN):c.-90del	FKTN	Deletion (5 prime UTR variant +2 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 +2 more	GConflicting classifications of pathogenicity
Select item 2584581	NM_001079802.2(FKTN):c.-89+8A>G	FKTN	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1X	GUncertain significance
Select item 1242033	NM_001079802.2(FKTN):c.-89+43T>C	FKTN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1326817	NM_001079802.2(FKTN):c.-89+120G>A	FKTN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1293261	NM_001079802.2(FKTN):c.-89+121T>C	FKTN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1216768	NM_001079802.2(FKTN):c.-89+243A>G	FKTN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1187264	NM_001079802.2(FKTN):c.-88-344C>T	FKTN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 669851	NM_001079802.2(FKTN):c.-88-268_-88-266del	FKTN	Microsatellite (intron variant)	not provided	GLikely benign
Select item 674071	NM_001079802.2(FKTN):c.-88-247T>A	FKTN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1199667	NM_001079802.2(FKTN):c.-88-110T>A	FKTN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 137383	NM_001079802.2(FKTN):c.-88-6T>C	FKTN	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1190647	NM_001079802.2(FKTN):c.-88-5C>T	FKTN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 162564	NM_001079802.2(FKTN):c.-77A>G	FKTN	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 93509	NM_001079802.2(FKTN):c.-45G>T	FKTN	Single nucleotide variant (5 prime UTR variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 +5 more	GBenign/Likely benign
Select item 912449	NM_001079802.2(FKTN):c.-39G>A	FKTN	Single nucleotide variant (5 prime UTR variant +1 more)	Dilated cardiomyopathy 1X +1 more	GUncertain significance
Select item 651835	NC_000009.11:g.(?_108337304)_(108358948_?)dup	FKTN	Duplication	Walker-Warburg congenital muscular dystrophy	GUncertain significance
Select item 497309	NM_001079802.2(FKTN):c.-7C>G	FKTN	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2428950	NM_001079802.2(FKTN):c.-6A>G	FKTN	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 551221	NM_001079802.2(FKTN):c.-1_2del (p.Met1del)	FKTN (M1del)	Deletion (inframe_deletion +3 more)	Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 +3 more	GConflicting classifications of pathogenicity
Select item 1549842	NM_001079802.2(FKTN):c.6T>C (p.Ser2=)	FKTN	Single nucleotide variant (synonymous variant +2 more)	Walker-Warburg congenital muscular dystrophy	GLikely benign
Select item 1499818	NM_001079802.2(FKTN):c.6T>G (p.Ser2Arg)	FKTN (S2R)	Single nucleotide variant (missense variant +2 more)	Walker-Warburg congenital muscular dystrophy +1 more	GUncertain significance
Select item 407111	NM_001079802.2(FKTN):c.7A>G (p.Arg3Gly)	FKTN (R3G)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype +6 more	GUncertain significance
Select item 2441454	NM_001079802.2(FKTN):c.10A>T (p.Ile4Phe)	FKTN (I4F)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 528814	NM_001079802.2(FKTN):c.10A>C (p.Ile4Leu)	FKTN (I4L)	Single nucleotide variant (missense variant +2 more)	Walker-Warburg congenital muscular dystrophy	GUncertain significance
Select item 1986739	NM_001079802.2(FKTN):c.11T>C (p.Ile4Thr)	FKTN (I4T)	Single nucleotide variant (missense variant +2 more)	Walker-Warburg congenital muscular dystrophy	GUncertain significance
Select item 640673	NM_001079802.2(FKTN):c.12C>G (p.Ile4Met)	FKTN (I4M)	Single nucleotide variant (missense variant +2 more)	Walker-Warburg congenital muscular dystrophy	GUncertain significance
Select item 528831	NM_001079802.2(FKTN):c.12C>T (p.Ile4=)	FKTN	Single nucleotide variant (synonymous variant +2 more)	Walker-Warburg congenital muscular dystrophy	GLikely benign
Select item 1064269	NM_001079802.2(FKTN):c.13A>C (p.Asn5His)	FKTN (N5H)	Single nucleotide variant (missense variant +2 more)	Walker-Warburg congenital muscular dystrophy	GUncertain significance
Select item 575410	NM_001079802.2(FKTN):c.13A>G (p.Asn5Asp)	FKTN (N5D)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 567644	NM_001079802.2(FKTN):c.14A>G (p.Asn5Ser)	FKTN (N5S)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 1110840	NM_001079802.2(FKTN):c.15T>C (p.Asn5=)	FKTN	Single nucleotide variant (synonymous variant +2 more)	Walker-Warburg congenital muscular dystrophy	GLikely benign
Select item 1199354	NM_001079802.2(FKTN):c.18G>C (p.Lys6Asn)	FKTN (K6N)	Single nucleotide variant (missense variant +2 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 +2 more	GUncertain significance
Select item 2675732	NM_001079802.2(FKTN):c.21del (p.Asn7fs)	FKTN (N7fs)	Deletion (frameshift variant +2 more)	Dilated cardiomyopathy 1X	GLikely pathogenic
Select item 1390918	NM_001079802.2(FKTN):c.21C>G (p.Asn7Lys)	FKTN (N7K)	Single nucleotide variant (missense variant +2 more)	Walker-Warburg congenital muscular dystrophy	GUncertain significance
Select item 286899	NM_001079802.2(FKTN):c.21C>T (p.Asn7=)	FKTN	Single nucleotide variant (synonymous variant +2 more)	Walker-Warburg congenital muscular dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 566394	NM_001079802.2(FKTN):c.22G>A (p.Val8Met)	FKTN (V8M)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 264150	NM_001079802.2(FKTN):c.22G>T (p.Val8Leu)	FKTN (V8L)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GUncertain significance
Select item 1060463	NM_001079802.2(FKTN):c.25G>C (p.Val9Leu)	FKTN (V9L)	Single nucleotide variant (missense variant +2 more)	Walker-Warburg congenital muscular dystrophy	GUncertain significance
Select item 162566	NM_001079802.2(FKTN):c.25G>T (p.Val9Phe)	FKTN (V9F)	Single nucleotide variant (missense variant +2 more)	Walker-Warburg congenital muscular dystrophy +7 more	GUncertain significance
Select item 1796211	NM_001079802.2(FKTN):c.27T>G (p.Val9=)	FKTN	Single nucleotide variant (synonymous variant +2 more)	Walker-Warburg congenital muscular dystrophy +1 more	GLikely benign
Select item 640945	NM_001079802.2(FKTN):c.29T>C (p.Leu10Ser)	FKTN (L10S)	Single nucleotide variant (missense variant +2 more)	Walker-Warburg congenital muscular dystrophy	GUncertain significance
Select item 528835	NM_001079802.2(FKTN):c.30G>A (p.Leu10=)	FKTN	Single nucleotide variant (synonymous variant +2 more)	Walker-Warburg congenital muscular dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 528829	NM_001079802.2(FKTN):c.34C>G (p.Leu12Val)	FKTN (L12V)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 1560000	NM_001079802.2(FKTN):c.37T>C (p.Leu13=)	FKTN	Single nucleotide variant (synonymous variant +2 more)	Walker-Warburg congenital muscular dystrophy	GLikely benign
Select item 2675730	NM_001079802.2(FKTN):c.38T>A (p.Leu13Ter)	FKTN (L13*)	Single nucleotide variant (nonsense +2 more)	Dilated cardiomyopathy 1X	GLikely pathogenic
Select item 952152	NM_001079802.2(FKTN):c.41C>G (p.Thr14Arg)	FKTN (T14R)	Single nucleotide variant (missense variant +2 more)	Walker-Warburg congenital muscular dystrophy	GUncertain significance
Select item 93520	NM_001079802.2(FKTN):c.41C>T (p.Thr14Met)	FKTN (T14M)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype +7 more	GUncertain significance
Select item 1103946	NM_001079802.2(FKTN):c.42G>T (p.Thr14=)	FKTN	Single nucleotide variant (synonymous variant +2 more)	Walker-Warburg congenital muscular dystrophy	GLikely benign
Select item 697042	NM_001079802.2(FKTN):c.42G>C (p.Thr14=)	FKTN	Single nucleotide variant (synonymous variant +2 more)	Walker-Warburg congenital muscular dystrophy	GLikely benign
Select item 555661	NM_001079802.2(FKTN):c.42del (p.Thr14_Leu15insTer)	FKTN	Deletion (frameshift variant +2 more)	Walker-Warburg congenital muscular dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 93521	NM_001079802.2(FKTN):c.42G>A (p.Thr14=)	FKTN	Single nucleotide variant (synonymous variant +2 more)	not specified +3 more	GBenign
Select item 1960176	NM_001079802.2(FKTN):c.43C>T (p.Leu15=)	FKTN	Single nucleotide variant (synonymous variant +2 more)	Walker-Warburg congenital muscular dystrophy	GLikely benign
Select item 1652854	NM_001079802.2(FKTN):c.45G>T (p.Leu15=)	FKTN	Single nucleotide variant (synonymous variant +2 more)	Walker-Warburg congenital muscular dystrophy	GLikely benign
Select item 1610355	NM_001079802.2(FKTN):c.48A>G (p.Thr16=)	FKTN	Single nucleotide variant (synonymous variant +2 more)	Walker-Warburg congenital muscular dystrophy	GLikely benign
Select item 2675716	NM_001079802.2(FKTN):c.49A>C (p.Ser17Arg)	FKTN (S17R)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1947573	NM_001079802.2(FKTN):c.49A>G (p.Ser17Gly)	FKTN (S17G)	Single nucleotide variant (missense variant +2 more)	Walker-Warburg congenital muscular dystrophy	GUncertain significance
Select item 2837318	NM_001079802.2(FKTN):c.51T>C (p.Ser17=)	FKTN	Single nucleotide variant (synonymous variant +2 more)	Walker-Warburg congenital muscular dystrophy	GLikely benign
Select item 2675722	NM_001079802.2(FKTN):c.60dup (p.Leu21fs)	FKTN (L21fs)	Duplication (frameshift variant +2 more)	Dilated cardiomyopathy 1X	GLikely pathogenic
Select item 1137007	NM_001079802.2(FKTN):c.57A>G (p.Ala19=)	FKTN	Single nucleotide variant (synonymous variant +2 more)	Cardiovascular phenotype +1 more	GLikely benign
Select item 459222	NM_001079802.2(FKTN):c.58T>G (p.Phe20Val)	FKTN (F20V)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype +2 more	GUncertain significance

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