64423[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 144518	GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3	LOC130056651, LOC130056652 +1423 more	Copy number gain	See cases	GPathogenic
Select item 149176	GRCh38/hg38 14q24.3-32.33(chr14:77222795-106879298)x3	ADCK1, ADSS1 +1204 more	Copy number gain	See cases	GPathogenic
Select item 58526	GRCh38/hg38 14q31.3-32.33(chr14:86094030-106832642)x3	LOC130056392, LOC130056393 +1073 more	Copy number gain	See cases	GPathogenic
Select item 58527	GRCh38/hg38 14q32.12-32.33(chr14:91455861-106832642)x3	IGHD5-18, IGHD5-24 +881 more	Copy number gain	See cases	GPathogenic
Select item 146638	GRCh38/hg38 14q32.12-32.33(chr14:92540983-104863658)x3	LOC130056359, LOC130056360 +663 more	Copy number gain	See cases	GPathogenic
Select item 146793	GRCh38/hg38 14q32.13-32.33(chr14:95524407-106879501)x1	LOC130056380, LOC130056381 +755 more	Copy number loss	See cases	GPathogenic
Select item 146074	GRCh38/hg38 14q32.2-32.33(chr14:97638520-106855263)x3	LOC130056535, LOC130056536 +671 more	Copy number gain	See cases	GPathogenic
Select item 57085	GRCh38/hg38 14q32.2-32.33(chr14:97938637-106855263)x1	LOC130056672, LOC130056673 +667 more	Copy number loss	See cases	GPathogenic
Select item 146615	GRCh38/hg38 14q32.2-32.33(chr14:99448012-106850609)x3	LOC130056604, LOC130056605 +654 more	Copy number gain	See cases	GPathogenic
Select item 144349	GRCh38/hg38 14q32.2-32.33(chr14:99831655-106855263)x1	ADSS1, AHNAK2 +632 more	Copy number loss	See cases	GPathogenic
Select item 146084	GRCh38/hg38 14q32.2-32.33(chr14:100309382-105987610)x3	MIR493, MIR494 +530 more	Copy number gain	See cases	GPathogenic
Select item 57267	GRCh38/hg38 14q32.2-32.33(chr14:100309382-106855263)x1	ADSS1, AHNAK2 +582 more	Copy number loss	See cases	GPathogenic
Select item 155595	GRCh38/hg38 14q32.2-32.33(chr14:100582059-106877229)x1	LOC130056480, LOC130056481 +571 more	Copy number loss	See cases	GPathogenic
Select item 57413	GRCh38/hg38 14q32.2-32.33(chr14:100808300-106855263)x1	IGHV1-46, IGHV1-58 +561 more	Copy number loss	See cases	GPathogenic
Select item 154386	GRCh38/hg38 14q32.31-32.33(chr14:101665602-106855263)x1	MIR6765, MIR8071-1 +441 more	Copy number loss	See cases	GPathogenic
Select item 150835	GRCh38/hg38 14q32.31-32.33(chr14:101925670-106876323)x1	ADSS1, AHNAK2 +416 more	Copy number loss	See cases	GPathogenic
Select item 153602	GRCh38/hg38 14q32.31-32.33(chr14:102239422-106877229)x1	ADSS1, AHNAK2 +397 more	Copy number loss	See cases	GPathogenic
Select item 2579167	GRCh38/hg38 14q32.31-32.33(chr14:102263440-106874929)x1	LOC130056644, LOC130056645 +397 more	Copy number loss	Neurodevelopmental disorder	GPathogenic
Select item 57840	GRCh38/hg38 14q32.31-32.33(chr14:102584963-104898605)x1	ADSS1, AKT1 +177 more	Copy number loss	See cases	GPathogenic
Select item 155087	GRCh38/hg38 14q32.31-32.33(chr14:102605096-106879298)x1	ADSS1, AHNAK2 +367 more	Copy number loss	See cases	GPathogenic
Select item 154526	GRCh38/hg38 14q32.32-32.33(chr14:103322414-106855263)x3	ADSS1, AHNAK2 +304 more	Copy number gain	See cases	GPathogenic
Select item 57841	GRCh38/hg38 14q32.33(chr14:103784758-106870558)x1	ADSS1, AHNAK2 +256 more	Copy number loss	See cases	GPathogenic
Select item 154736	GRCh38/hg38 14q32.33(chr14:103823600-106879298)x1	ADSS1, AHNAK2 +256 more	Copy number loss	See cases	GPathogenic
Select item 154247	GRCh38/hg38 14q32.33(chr14:104051258-106877229)x1	ADSS1, AHNAK2 +241 more	Copy number loss	See cases	GPathogenic
Select item 58348	GRCh38/hg38 14q32.33(chr14:104309234-104898546)x3	ADSS1, AKT1 +42 more	Copy number gain	See cases	GUncertain significance
Select item 146500	GRCh38/hg38 14q32.33(chr14:104622881-106678844)x1	ADSS1, AHNAK2 +216 more	Copy number loss	See cases	GUncertain significance
Select item 882332	NM_022489.4(INF2):c.-88G>C	LOC130056627, INF2	Single nucleotide variant (5 prime UTR variant)	Focal segmental glomerulosclerosis 5	GUncertain significance
Select item 312673	NM_022489.4(INF2):c.-85G>A	INF2, LOC130056627	Single nucleotide variant (5 prime UTR variant)	Focal segmental glomerulosclerosis 5 +1 more	GBenign
Select item 312674	NM_022489.4(INF2):c.-50G>A	INF2, LOC130056627	Single nucleotide variant (5 prime UTR variant)	Focal segmental glomerulosclerosis 5	GUncertain significance
Select item 385367	NM_022489.4(INF2):c.-10G>C	INF2	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 312675	NM_022489.4(INF2):c.-10G>A	INF2	Single nucleotide variant (5 prime UTR variant)	Focal segmental glomerulosclerosis 5 +2 more	GConflicting classifications of pathogenicity
Select item 380922	NM_022489.4(INF2):c.-10+16C>A	INF2, LOC130056628	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1254136	NM_022489.4(INF2):c.-10+104G>A	INF2, LOC130056628	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3341830	NM_022489.4(INF2):c.-9-1774G>A	INF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1179742	NM_022489.4(INF2):c.-9-302C>G	INF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1182018	NM_022489.4(INF2):c.-9-240G>T	INF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1234542	NM_022489.4(INF2):c.-9-37C>T	INF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 648519	NC_000014.8:g.(?_105167683)_(105185180_?)dup	INF2, LOC130056630	Duplication	Focal segmental glomerulosclerosis 5 +1 more	GUncertain significance
Select item 652975	NC_000014.9:g.(?_104701356)_(104703963_?)del	INF2	Deletion	Focal segmental glomerulosclerosis 5 +1 more	GUncertain significance
Select item 1907325	NM_022489.4(INF2):c.6G>A (p.Ser2=)	INF2	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 5 +1 more	GBenign
Select item 3338376	NM_022489.4(INF2):c.13G>A (p.Glu5Lys)	INF2 (E5K)	Single nucleotide variant (missense variant +1 more)	Focal segmental glomerulosclerosis 5	GUncertain significance
Select item 2953871	NM_022489.4(INF2):c.14A>T (p.Glu5Val)	INF2 (E5V)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 5 +1 more	GUncertain significance
Select item 2947602	NM_022489.4(INF2):c.17G>T (p.Gly6Val)	INF2 (G6V)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 5 +1 more	GUncertain significance
Select item 757333	NM_022489.4(INF2):c.18C>T (p.Gly6=)	INF2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate E +1 more	GConflicting classifications of pathogenicity
Select item 1785881	NM_022489.4(INF2):c.20C>T (p.Ala7Val)	INF2 (A7V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1312837	NM_022489.4(INF2):c.25C>A (p.Arg9Ser)	INF2 (R9S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1950794	NM_022489.4(INF2):c.26G>C (p.Arg9Pro)	INF2 (R9P)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 5 +1 more	GUncertain significance
Select item 1903886	NM_022489.4(INF2):c.26G>T (p.Arg9Leu)	INF2 (R9L)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 5 +1 more	GLikely benign
Select item 962106	NM_022489.4(INF2):c.34G>A (p.Ala12Thr)	INF2 (A12T)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 5 +1 more	GUncertain significance
Select item 312676	NM_022489.4(INF2):c.37G>A (p.Ala13Thr)	INF2 (A13T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 261625	NM_022489.4(INF2):c.42G>A (p.Leu14=)	INF2	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 5 +4 more	GBenign
Select item 2938489	NM_022489.4(INF2):c.51G>A (p.Lys17=)	INF2	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 5 +1 more	GLikely benign
Select item 2922671	NM_022489.4(INF2):c.54G>A (p.Leu18=)	INF2	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 5 +1 more	GLikely benign
Select item 2949010	NM_022489.4(INF2):c.66T>C (p.Asp22=)	INF2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate E +1 more	GLikely benign
Select item 857212	NM_022489.4(INF2):c.67T>G (p.Ser23Ala)	INF2 (S23A)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 5 +1 more	GUncertain significance
Select item 246272	NM_022489.4(INF2):c.67T>A (p.Ser23Thr)	INF2 (S23T)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 5 +2 more	GLikely benign
Select item 2050106	NM_022489.4(INF2):c.69G>A (p.Ser23=)	INF2	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 5 +1 more	GLikely benign
Select item 1006945	NM_022489.4(INF2):c.76A>C (p.Thr26Pro)	INF2 (T26P)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate E +2 more	GUncertain significance
Select item 1052793	NM_022489.4(INF2):c.77C>T (p.Thr26Met)	INF2 (T26M)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 5 +1 more	GUncertain significance
Select item 2109247	NM_022489.4(INF2):c.83C>T (p.Ala28Val)	INF2 (A28V)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 5 +1 more	GUncertain significance
Select item 562378	NM_022489.4(INF2):c.89T>G (p.Leu30Arg)	INF2 (L30R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2156898	NM_022489.4(INF2):c.93G>A (p.Glu31=)	INF2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate E +1 more	GLikely benign
Select item 1979056	NM_022489.4(INF2):c.96C>A (p.Ser32Arg)	INF2 (S32R)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 5 +1 more	GUncertain significance
Select item 1638434	NM_022489.4(INF2):c.96C>T (p.Ser32=)	INF2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate E +1 more	GLikely benign
Select item 2936506	NM_022489.4(INF2):c.99G>A (p.Ala33=)	INF2	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 5 +1 more	GLikely benign
Select item 2155733	NM_022489.4(INF2):c.99G>C (p.Ala33=)	INF2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate E +1 more	GLikely benign
Select item 1153066	NM_022489.4(INF2):c.102C>T (p.Asp34=)	INF2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate E +1 more	GLikely benign
Select item 261603	NM_022489.4(INF2):c.105C>T (p.Pro35=)	INF2	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 2128885	NM_022489.4(INF2):c.111G>A (p.Leu37=)	INF2	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 5 +1 more	GLikely benign
Select item 705466	NM_022489.4(INF2):c.118C>A (p.Arg40=)	INF2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate E +1 more	GLikely benign
Select item 1020561	NM_022489.4(INF2):c.119G>C (p.Arg40Pro)	INF2 (R40P)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate E +1 more	GUncertain significance
Select item 1054	NM_022489.4(INF2):c.125T>C (p.Leu42Pro)	INF2 (L42P)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 5	GPathogenic
Select item 2932726	NM_022489.4(INF2):c.134C>T (p.Pro45Leu)	INF2 (P45L)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 5 +1 more	GUncertain significance
Select item 3236024	NM_022489.4(INF2):c.137C>G (p.Ser46Cys)	INF2 (S46C)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 5	GLikely pathogenic
Select item 937237	NM_022489.4(INF2):c.137C>T (p.Ser46Phe)	INF2 (S46F)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 5 +1 more	GUncertain significance
Select item 312677	NM_022489.4(INF2):c.144C>T (p.Val48=)	INF2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 472837	NM_022489.4(INF2):c.148T>G (p.Tyr50Asp)	INF2 (Y50D)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate E +1 more	GPathogenic
Select item 180374	NM_022489.4(INF2):c.149A>C (p.Tyr50Ser)	INF2 (Y50S)	Single nucleotide variant (missense variant)	INF2-related disorder	GUncertain significance
Select item 540048	NM_022489.4(INF2):c.150C>A (p.Tyr50Ter)	INF2 (Y50*)	Single nucleotide variant (nonsense)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1775026	NM_022489.4(INF2):c.154G>T (p.Gly52Cys)	INF2 (G52C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2575974	NM_022489.4(INF2):c.158T>C (p.Leu53Pro)	INF2 (L53P)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 981952	NM_022489.4(INF2):c.161G>C (p.Arg54Pro)	INF2 (R54P)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 5	GLikely pathogenic
Select item 827825	NM_022489.4(INF2):c.167G>A (p.Arg56His)	INF2 (R56H)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 5	GLikely pathogenic
Select item 1093198	NM_022489.4(INF2):c.168C>A (p.Arg56=)	INF2	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 5 +1 more	GLikely benign
Select item 637708	NM_022489.4(INF2):c.170T>G (p.Leu57Arg)	INF2 (L57R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 637700	NM_022489.4(INF2):c.170T>C (p.Leu57Pro)	INF2 (L57P)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 5 +1 more	GPathogenic
Select item 1001718	NM_022489.4(INF2):c.181G>C (p.Asp61His)	INF2 (D61H)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 5 +1 more	GUncertain significance
Select item 472840	NM_022489.4(INF2):c.186C>T (p.Gly62=)	INF2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate E +2 more	GLikely benign
Select item 848707	NM_022489.4(INF2):c.188_208del (p.Gly63_Leu69del)	INF2	Deletion (inframe_deletion)	Charcot-Marie-Tooth disease dominant intermediate E +1 more	GUncertain significance
Select item 1487843	NM_022489.4(INF2):c.188G>A (p.Gly63Asp)	INF2 (G63D)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 5 +1 more	GUncertain significance
Select item 1992962	NM_022489.4(INF2):c.200A>G (p.Gln67Arg)	INF2 (Q67R)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 5 +1 more	GUncertain significance
Select item 1022806	NM_022489.4(INF2):c.210_224dup (p.Glu70_Leu74dup)	INF2	Duplication (inframe_insertion)	Focal segmental glomerulosclerosis 5 +1 more	GUncertain significance
Select item 637709	NM_022489.4(INF2):c.203T>C (p.Phe68Ser)	INF2 (F68S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 3066115	NM_022489.4(INF2):c.210_224del (p.Glu70_Leu74del)	INF2	Deletion (inframe deletion +1 more)	Focal segmental glomerulosclerosis 5	GUncertain significance
Select item 637946	NM_022489.4(INF2):c.205_216del (p.Leu69_Ser72del)	INF2	Deletion (inframe_deletion)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 2945704	NM_022489.4(INF2):c.205C>T (p.Leu69=)	INF2	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 5 +1 more	GLikely benign
Select item 637710	NM_022489.4(INF2):c.206T>C (p.Leu69Pro)	INF2 (L69P)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 599131	NM_022489.4(INF2):c.217G>A (p.Gly73Ser)	INF2 (G73S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate E +2 more	GPathogenic

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