7466[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2579172	GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3	LOC123477714, LOC123477715 +1267 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 154884	GRCh38/hg38 4p16.3-16.1(chr4:36424-7359817)x1	ADD1, ADRA2C +426 more	Copy number loss	See cases	GPathogenic
Select item 149173	GRCh38/hg38 4p16.3-16.1(chr4:36424-9369341)x1	NELFA, NICOL1 +504 more	Copy number loss	See cases	GPathogenic
Select item 148186	GRCh38/hg38 4p16.3-12(chr4:36424-47491595)x3	LOC129992145, LOC129992146 +1209 more	Copy number gain	See cases	GPathogenic
Select item 150735	GRCh38/hg38 4p16.3-15.32(chr4:37335-15869056)x1	AFAP1, AFAP1-AS1 +633 more	Copy number loss	See cases	GPathogenic
Select item 146749	GRCh38/hg38 4p16.3-16.1(chr4:37335-9369258)x1	ABLIM2, ACOX3 +504 more	Copy number loss	See cases	GPathogenic
Select item 147969	GRCh38/hg38 4p16.3-15.31(chr4:51519-17798196)x3	ABLIM2, ACOX3 +674 more	Copy number gain	See cases	GPathogenic
Select item 57239	GRCh38/hg38 4p16.3-16.1(chr4:51519-8222798)x3	ABLIM2, ADD1 +461 more	Copy number gain	See cases	GPathogenic
Select item 57874	GRCh38/hg38 4p16.3-15.33(chr4:56878-14499760)x1	ABLIM2, ACOX3 +597 more	Copy number loss	See cases	GPathogenic
Select item 155646	GRCh38/hg38 4p16.3-15.31(chr4:68453-20385608)x1	LOC129992028, LOC129992029 +691 more	Copy number loss	See cases	GPathogenic
Select item 155619	GRCh38/hg38 4p16.3-15.33(chr4:68453-14612453)x1	LOC129992002, LOC129992003 +597 more	Copy number loss	See cases	GPathogenic
Select item 155310	GRCh38/hg38 4p16.3-16.1(chr4:68453-8730129)x1	ABLIM2, ACOX3 +479 more	Copy number loss	See cases	GPathogenic
Select item 149255	GRCh38/hg38 4p16.3-15.31(chr4:72555-21022414)x3	LOC126806993, LOC126806994 +702 more	Copy number gain	See cases	GPathogenic
Select item 149142	GRCh38/hg38 4p16.3-15.33(chr4:72555-12898612)x1	ABLIM2, ACOX3 +569 more	Copy number loss	See cases	GPathogenic
Select item 147922	GRCh38/hg38 4p16.3-16.1(chr4:72555-10250666)x1	ABLIM2, ACOX3 +536 more	Copy number loss	See cases	GPathogenic
Select item 146353	GRCh38/hg38 4p16.3-15.32(chr4:72555-17278013)x1	ABLIM2, ACOX3 +657 more	Copy number loss	See cases	GPathogenic
Select item 146219	GRCh38/hg38 4p16.3-15.32(chr4:72555-15658035)x1	ABLIM2, ACOX3 +623 more	Copy number loss	See cases	GPathogenic
Select item 144195	GRCh38/hg38 4p16.3-14(chr4:72555-39477144)x3	ABLIM2, ACOX3 +1039 more	Copy number gain	See cases	GPathogenic
Select item 58011	GRCh38/hg38 4p16.3-15.1(chr4:72555-33130620)x3	LOC129992237, LOC129992238 +861 more	Copy number gain	See cases	GPathogenic
Select item 57902	GRCh38/hg38 4p16.3-15.1(chr4:72555-28066309)x1	LOC129992157, LOC129992158 +832 more	Copy number loss	See cases	GPathogenic
Select item 57901	GRCh38/hg38 4p16.3-16.1(chr4:72555-7829425)x1	NSD2, NSG1 +438 more	Copy number loss	See cases	GPathogenic
Select item 146023	GRCh38/hg38 4p16.3-15.32(chr4:78578-15625573)x3	ABLIM2, ACOX3 +618 more	Copy number gain	See cases	GPathogenic
Select item 146010	GRCh38/hg38 4p16.3-16.1(chr4:78578-10335613)x1	LOC129992049, LOC129992050 +537 more	Copy number loss	See cases	GPathogenic
Select item 58015	GRCh38/hg38 4p16.3-14(chr4:85149-38700366)x3	SOD3, SORCS2 +987 more	Copy number gain	See cases	GPathogenic
Select item 58013	GRCh38/hg38 4p16.3-15.2(chr4:85149-22450018)x3	ABLIM2, ACOX3 +716 more	Copy number gain	See cases	GPathogenic
Select item 57938	GRCh38/hg38 4p16.3-16.1(chr4:85149-7843616)x1	LOC129992176, LOC129992177 +439 more	Copy number loss	See cases	GPathogenic
Select item 57937	GRCh38/hg38 4p16.3-15.32(chr4:85149-17486742)x1	ABLIM2, ACOX3 +659 more	Copy number loss	See cases	GPathogenic
Select item 57936	GRCh38/hg38 4p16.3-16.1(chr4:85149-7063699)x1	ADD1, ADRA2C +414 more	Copy number loss	See cases	GPathogenic
Select item 2579174	GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3	LOC129992561, LOC129992562 +1409 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 146113	GRCh38/hg38 4p16.3-16.1(chr4:135972-9369341)x1	ABLIM2, ACOX3 +500 more	Copy number loss	See cases	GPathogenic
Select item 2579173	GRCh38/hg38 4p16.3-13(chr4:2904667-42963232)x3	LOC129992261, LOC129992262 +962 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 1679802	Single allele	ADRA2C, BLOC1S4 +181 more	Deletion	not provided	GLikely pathogenic
Select item 153003	GRCh38/hg38 4p16.3-15.32(chr4:4426403-17460549)x1	ABLIM2, ACOX3 +365 more	Copy number loss	See cases	GPathogenic
Select item 150692	GRCh38/hg38 4p16.2-16.1(chr4:5859050-6557271)x1	C4orf50, CRMP1 +31 more	Copy number loss	See cases	GUncertain significance
Select item 146368	GRCh38/hg38 4p16.2-16.1(chr4:5875413-6557271)x1	C4orf50, CRMP1 +31 more	Copy number loss	See cases	GUncertain significance
Select item 684340	NM_006005.3(WFS1):c.-331G>T	WFS1	Single nucleotide variant	not provided	GBenign
Select item 678993	NM_006005.3(WFS1):c.-264A>G	WFS1	Single nucleotide variant	Wolfram syndrome 1 +1 more	GBenign/Likely benign
Select item 1242909	NC_000004.12:g.6269836_6269841dup	LOC129992166, WFS1	Duplication (genic upstream transcript variant)	not provided	GBenign
Select item 3034271	NC_000004.12:g.6269836T>A	LOC129992166, WFS1	Single nucleotide variant	WFS1-related condition	GLikely benign
Select item 3033603	NC_000004.12:g.6269848T>A	LOC129992166, WFS1	Single nucleotide variant	WFS1-related condition	GLikely benign
Select item 906170	NM_006005.3(WFS1):c.-148G>T	LOC129992166, WFS1	Single nucleotide variant (5 prime UTR variant)	WFS1-Related Spectrum Disorders +2 more	GConflicting classifications of pathogenicity
Select item 349294	NM_006005.3(WFS1):c.-141A>G	LOC129992166, WFS1	Single nucleotide variant (5 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 6 +3 more	GConflicting classifications of pathogenicity
Select item 349295	NM_006005.3(WFS1):c.-133G>T	LOC129992166, WFS1	Single nucleotide variant (5 prime UTR variant)	Wolfram syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 349296	NM_006005.3(WFS1):c.-130C>T	LOC129992166, WFS1	Single nucleotide variant (5 prime UTR variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 349297	NM_006005.3(WFS1):c.-129A>G	LOC129992166, WFS1	Single nucleotide variant (5 prime UTR variant)	Wolfram syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 907168	NM_006005.3(WFS1):c.-127A>G	LOC129992166, WFS1	Single nucleotide variant (5 prime UTR variant)	WFS1-Related Spectrum Disorders +2 more	GConflicting classifications of pathogenicity
Select item 349298	NM_006005.3(WFS1):c.-106A>G	LOC129992166, WFS1	Single nucleotide variant (5 prime UTR variant)	WFS1-Related Spectrum Disorders +2 more	GConflicting classifications of pathogenicity
Select item 349299	NM_006005.3(WFS1):c.-105T>G	LOC129992166, WFS1	Single nucleotide variant (5 prime UTR variant)	Wolfram syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 1802674	NM_006005.3(WFS1):c.-100C>T	LOC129992166, WFS1	Single nucleotide variant (5 prime UTR variant)	Wolfram syndrome 1	GBenign
Select item 349300	NM_006005.3(WFS1):c.-100C>G	LOC129992166, WFS1	Single nucleotide variant (5 prime UTR variant)	WFS1-Related Spectrum Disorders +1 more	GUncertain significance
Select item 903823	NM_006005.3(WFS1):c.-93G>C	LOC129992166, WFS1	Single nucleotide variant (5 prime UTR variant)	WFS1-Related Spectrum Disorders +2 more	GConflicting classifications of pathogenicity
Select item 1802671	NM_006005.3(WFS1):c.-55C>T	WFS1	Single nucleotide variant (5 prime UTR variant)	Wolfram syndrome 1	GBenign
Select item 349301	NM_006005.3(WFS1):c.-55C>G	WFS1	Single nucleotide variant (5 prime UTR variant)	WFS1-Related Spectrum Disorders +1 more	GUncertain significance
Select item 903824	NM_006005.3(WFS1):c.-43G>C	WFS1	Single nucleotide variant (5 prime UTR variant)	WFS1-Related Spectrum Disorders +3 more	GConflicting classifications of pathogenicity
Select item 382132	NM_006005.3(WFS1):c.-27C>T	WFS1	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GLikely benign
Select item 137921	NM_006005.3(WFS1):c.-6+11C>T	WFS1	Single nucleotide variant (intron variant)	Wolfram syndrome 1 +3 more	GBenign/Likely benign
Select item 1234881	NM_006005.3(WFS1):c.-6+14C>A	WFS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233567	NM_006005.3(WFS1):c.-6+32_-6+49dup	WFS1	Duplication (intron variant)	not provided	GBenign
Select item 1292283	NM_006005.3(WFS1):c.-6+85T>C	WFS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233658	NM_006005.3(WFS1):c.-6+229G>C	WFS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2438606	NM_006005.3(WFS1):c.-6+1824G>C	WFS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2438604	NM_006005.3(WFS1):c.-5-1409G>T	WFS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1284202	NM_006005.3(WFS1):c.-5-255G>C	WFS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263828	NM_006005.3(WFS1):c.-5-205G>C	WFS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1200561	NM_006005.3(WFS1):c.-5-134T>C	WFS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1257985	NM_006005.3(WFS1):c.-5-131C>T	WFS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 505403	NM_006005.3(WFS1):c.-4C>T	WFS1	Single nucleotide variant (intron variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1707072	NM_006005.3(WFS1):c.-2_-1inv	WFS1	Inversion (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1075961	NM_006005.3(WFS1):c.9dup (p.Asn4fs)	WFS1 (N4fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 130752	NM_006005.3(WFS1):c.9C>T (p.Ser3=)	WFS1	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 6 +4 more	GBenign
Select item 2044055	NM_006005.3(WFS1):c.13dup (p.Thr5fs)	WFS1 (T5fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1386448	NM_006005.3(WFS1):c.19C>T (p.Pro7Ser)	WFS1 (P7S)	Single nucleotide variant (missense variant)	Wolfram-like syndrome +5 more	GUncertain significance
Select item 195256	NM_006005.3(WFS1):c.20C>T (p.Pro7Leu)	WFS1 (P7L)	Single nucleotide variant (missense variant)	Monogenic diabetes +6 more	GUncertain significance
Select item 2896241	NM_006005.3(WFS1):c.21G>A (p.Pro7=)	WFS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 45449	NM_006005.3(WFS1):c.21G>T (p.Pro7=)	WFS1	Single nucleotide variant (synonymous variant)	WFS1-Related Spectrum Disorders +4 more	GBenign/Likely benign
Select item 349302	NM_006005.3(WFS1):c.28C>T (p.Pro10Ser)	WFS1 (P10S)	Single nucleotide variant (missense variant)	Wolfram syndrome 1 +5 more	GConflicting classifications of pathogenicity
Select item 2987421	NM_006005.3(WFS1):c.29C>T (p.Pro10Leu)	WFS1 (P10L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1650580	NM_006005.3(WFS1):c.33C>A (p.Ser11=)	WFS1	Single nucleotide variant (synonymous variant)	not provided +5 more	GLikely benign
Select item 227152	NM_006005.3(WFS1):c.41A>G (p.Gln14Arg)	WFS1 (Q14R)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 3190521	NM_006005.3(WFS1):c.44C>A (p.Pro15His)	WFS1 (P15H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2049018	NM_006005.3(WFS1):c.45C>A (p.Pro15=)	WFS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1951073	NM_006005.3(WFS1):c.45C>T (p.Pro15=)	WFS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1328332	NM_006005.3(WFS1):c.47C>T (p.Pro16Leu)	WFS1 (P16L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1897514	NM_006005.3(WFS1):c.48G>A (p.Pro16=)	WFS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2806199	NM_006005.3(WFS1):c.57_64dup (p.Gln22fs)	WFS1 (Q22fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 215372	NM_006005.3(WFS1):c.56C>T (p.Pro19Leu)	WFS1 (P19L)	Single nucleotide variant (missense variant)	Wolfram syndrome 1 +5 more	GConflicting classifications of pathogenicity
Select item 2920897	NM_006005.3(WFS1):c.57G>C (p.Pro19=)	WFS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 799088	NM_006005.3(WFS1):c.57G>A (p.Pro19=)	WFS1	Single nucleotide variant (synonymous variant)	Wolfram syndrome 1 +1 more	GBenign/Likely benign
Select item 2961085	NM_006005.3(WFS1):c.58C>T (p.Gln20Ter)	WFS1 (Q20*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1315875	NM_006005.3(WFS1):c.61C>A (p.Pro21Thr)	WFS1 (P21T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 929935	NM_006005.3(WFS1):c.61C>G (p.Pro21Ala)	WFS1 (P21A)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1378803	NM_006005.3(WFS1):c.67G>T (p.Ala23Ser)	WFS1 (A23S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1194445	NM_006005.3(WFS1):c.68C>T (p.Ala23Val)	WFS1 (A23V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 386280	NM_006005.3(WFS1):c.69G>A (p.Ala23=)	WFS1	Single nucleotide variant (synonymous variant)	Wolfram syndrome 1 +1 more	GBenign/Likely benign
Select item 349303	NM_006005.3(WFS1):c.70C>T (p.Arg24Cys)	WFS1 (R24C)	Single nucleotide variant (missense variant)	WFS1-Related Spectrum Disorders +2 more	GUncertain significance/Uncertain risk allele
Select item 1189603	NM_006005.3(WFS1):c.71G>A (p.Arg24His)	WFS1 (R24H)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 6 +5 more	GUncertain significance
Select item 1179030	NM_006005.3(WFS1):c.76C>T (p.Arg26Ter)	WFS1 (R26*)	Single nucleotide variant (nonsense)	Cataract 41 +4 more	GPathogenic
Select item 1316064	NM_006005.3(WFS1):c.77G>A (p.Arg26Gln)	WFS1 (R26Q)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 1810330	NM_006005.3(WFS1):c.81C>G (p.Leu27=)	WFS1	Single nucleotide variant (synonymous variant)	Wolfram syndrome 1	GBenign
Select item 906236	NM_006005.3(WFS1):c.81C>T (p.Leu27=)	WFS1	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 6 +5 more	GUncertain significance

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