8567[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148316	GRCh38/hg38 11p12-11.12(chr11:39179252-49135735)x1	ACCS, ACCSL +264 more	Copy number loss	See cases	GPathogenic
Select item 146079	GRCh38/hg38 11p12-11.2(chr11:41118322-48643003)x1	LOC130005585, LOC130005586 +258 more	Copy number loss	See cases	GPathogenic
Select item 150595	GRCh38/hg38 11p12-11.12(chr11:42727555-49135735)x3	ACCS, ACCSL +254 more	Copy number gain	See cases	GLikely pathogenic
Select item 57329	GRCh38/hg38 11p11.2(chr11:46840454-48643003)x1	ACP2, AGBL2 +88 more	Copy number loss	See cases	GPathogenic
Select item 151005	GRCh38/hg38 11p11.2(chr11:47210659-47427331)x1	ACP2, DDB2 +21 more	Copy number loss	See cases	GPathogenic
Select item 2352525	NM_001376571.1(MADD):c.46G>T (p.Val16Leu)	MADD (V16L)	Single nucleotide variant (intron variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3065452	NM_001376571.1(MADD):c.63-2A>G	MADD	Single nucleotide variant (splice acceptor variant +1 more)	Deeah syndrome	GLikely pathogenic
Select item 2537742	NM_001376571.1(MADD):c.81C>A (p.Ser27Arg)	MADD (S27R)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2430981	NM_001376571.1(MADD):c.94C>A (p.Pro32Thr)	MADD (P32T)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 3121980	NM_001376571.1(MADD):c.107G>A (p.Arg36Gln)	MADD (R36Q)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 709997	NM_001376571.1(MADD):c.131C>A (p.Thr44Asn)	MADD (T44N)	Single nucleotide variant (missense variant +3 more)	not provided +1 more	GBenign
Select item 2641760	NM_001376571.1(MADD):c.144G>A (p.Leu48=)	MADD	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 2246541	NM_001376571.1(MADD):c.199C>T (p.Arg67Trp)	MADD (R67W)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2410869	NM_001376571.1(MADD):c.233T>C (p.Val78Ala)	MADD (V10A +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2507161	NM_001376571.1(MADD):c.268C>T (p.Arg90Ter)	MADD (R22* +1 more)	Single nucleotide variant (nonsense +2 more)	not provided	GLikely pathogenic
Select item 2271297	NM_001376571.1(MADD):c.295C>T (p.Arg99Cys)	MADD (R31C +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1334762	NM_001376571.1(MADD):c.310C>T (p.Arg104Ter)	MADD (R104* +1 more)	Single nucleotide variant (nonsense +2 more)	Deeah syndrome	GLikely pathogenic
Select item 2630010	NM_001376571.1(MADD):c.382T>C (p.Ser128Pro)	MADD (S128P +1 more)	Single nucleotide variant (missense variant +2 more)	MADD-related condition	GUncertain significance
Select item 1335068	NM_001376571.1(MADD):c.417C>G (p.Gly139=)	MADD	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GLikely benign
Select item 2349368	NM_001376571.1(MADD):c.469C>T (p.Pro157Ser)	MADD (P157S +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2352754	NM_001376571.1(MADD):c.473G>A (p.Arg158Gln)	MADD (R90Q +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 779197	NM_001376571.1(MADD):c.482G>A (p.Arg161His)	MADD (R93H +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GBenign
Select item 1700868	NM_001376571.1(MADD):c.494C>T (p.Ala165Val)	MADD (A165V +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1213042	NM_001376571.1(MADD):c.494C>G (p.Ala165Gly)	MADD (A165G +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2407168	NM_001376571.1(MADD):c.508C>T (p.Arg170Cys)	MADD (R170C +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1209130	NM_001376571.1(MADD):c.509G>A (p.Arg170His)	MADD (R102H +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 2630124	NM_001376571.1(MADD):c.568C>T (p.Arg190Ter)	MADD (R122* +1 more)	Single nucleotide variant (nonsense +2 more)	MADD-related condition	GLikely pathogenic
Select item 2294730	NM_001376571.1(MADD):c.592C>T (p.Arg198Cys)	MADD (R198C +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 978079	NM_001376571.1(MADD):c.593G>A (p.Arg198His)	MADD (R198H +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2682541	NM_001376571.1(MADD):c.640A>G (p.Ile214Val)	MADD (I146V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 780969	NM_001376571.1(MADD):c.650G>A (p.Gly217Asp)	MADD (G149D +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 2433597	NM_001376571.1(MADD):c.671G>T (p.Trp224Leu)	MADD (W156L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2329159	NM_001376571.1(MADD):c.673C>T (p.Arg225Trp)	MADD (R157W +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1326727	NM_001376571.1(MADD):c.710C>G (p.Ser237Ter)	MADD (S15* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 978086	NM_001376571.1(MADD):c.770C>T (p.Ser257Phe)	MADD (S257F +2 more)	Single nucleotide variant (missense variant +1 more)	Deeah syndrome	GPathogenic
Select item 2433594	NM_001376571.1(MADD):c.774A>G (p.Pro258=)	MADD	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2641761	NM_001376571.1(MADD):c.780C>T (p.Pro260=)	MADD	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 978083	NM_001376571.1(MADD):c.914G>T (p.Gly305Val)	MADD (G305V +2 more)	Single nucleotide variant (missense variant +1 more)	Deeah syndrome	GPathogenic
Select item 3122008	NM_001376571.1(MADD):c.922G>A (p.Ala308Thr)	MADD (A240T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3122009	NM_001376571.1(MADD):c.946A>G (p.Ile316Val)	MADD (I248V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3122010	NM_001376571.1(MADD):c.949C>G (p.Leu317Val)	MADD (L95V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 978085	NM_001376571.1(MADD):c.963+1G>A	MADD	Single nucleotide variant (splice donor variant)	Deeah syndrome	GPathogenic
Select item 3048455	NM_001376571.1(MADD):c.975G>A (p.Gln325=)	MADD	Single nucleotide variant (synonymous variant +1 more)	MADD-related condition	GLikely benign
Select item 418287	NM_001376571.1(MADD):c.979C>T (p.Arg327Ter)	MADD (R327* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 806671	NM_001376571.1(MADD):c.994C>T (p.Leu332Phe)	MADD (L264F +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3121979	NM_001376571.1(MADD):c.1016T>C (p.Phe339Ser)	MADD (F117S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 806672	NM_001376571.1(MADD):c.1037T>C (p.Leu346Pro)	MADD (L346P +2 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia +2 more	GConflicting classifications of pathogenicity
Select item 1243998	NM_001376571.1(MADD):c.1041G>A (p.Glu347=)	MADD	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign
Select item 978082	NM_001376571.1(MADD):c.1061C>T (p.Pro354Leu)	MADD (P354L +2 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia	GPathogenic
Select item 3055675	NM_001376571.1(MADD):c.1083A>G (p.Ala361=)	MADD	Single nucleotide variant (synonymous variant +1 more)	MADD-related condition	GBenign
Select item 2672464	NM_001376571.1(MADD):c.1113C>T (p.Thr371=)	MADD	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 978040	NM_001376571.1(MADD):c.1115C>T (p.Pro372Leu)	MADD (P150L +2 more)	Single nucleotide variant (missense variant +1 more)	Deeah syndrome +1 more	GUncertain significance
Select item 1383781	NM_001376571.1(MADD):c.1205A>G (p.Asn402Ser)	MADD (N334S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2552233	NM_001376571.1(MADD):c.1210G>T (p.Val404Leu)	MADD (V182L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2428740	NM_001376571.1(MADD):c.1222A>C (p.Thr408Pro)	MADD (T186P +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2363154	NM_001376571.1(MADD):c.1223C>T (p.Thr408Ile)	MADD (T340I +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3034323	NM_001376571.1(MADD):c.1257A>G (p.Pro419=)	MADD	Single nucleotide variant (synonymous variant +1 more)	MADD-related condition	GLikely benign
Select item 768445	NM_001376571.1(MADD):c.1290+3A>G	MADD	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1334664	NM_001376571.1(MADD):c.1291-2A>G	MADD	Single nucleotide variant (splice acceptor variant)	Deeah syndrome +1 more	GLikely pathogenic
Select item 720869	NM_001376571.1(MADD):c.1330A>G (p.Asn444Asp)	MADD (N444D +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 3121981	NM_001376571.1(MADD):c.1337A>G (p.Glu446Gly)	MADD (E224G +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2320485	NM_001376571.1(MADD):c.1347T>G (p.His449Gln)	MADD (H381Q +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2573945	NM_001376571.1(MADD):c.1402A>G (p.Thr468Ala)	MADD (T246A +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2514401	NM_001376571.1(MADD):c.1406C>T (p.Pro469Leu)	MADD (P247L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1321156	NM_001376571.1(MADD):c.1440T>C (p.Asn480=)	MADD	Single nucleotide variant (synonymous variant +1 more)	Deeah syndrome +1 more	GBenign
Select item 2662411	NM_001376571.1(MADD):c.1441G>A (p.Asp481Asn)	MADD (D259N +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 985446	NM_001376571.1(MADD):c.1448A>G (p.Asp483Gly)	MADD (D261G +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1683540	NM_001376571.1(MADD):c.1469+14G>A	MADD	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia +1 more	GUncertain significance
Select item 2528061	NM_001376571.1(MADD):c.1577G>C (p.Gly526Ala)	MADD (G304A +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2495448	NM_001376571.1(MADD):c.1615G>A (p.Ala539Thr)	MADD (A471T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2539826	NM_001376571.1(MADD):c.1618G>A (p.Glu540Lys)	MADD (E318K +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2255542	NM_001376571.1(MADD):c.1655G>T (p.Gly552Val)	MADD (G484V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2682540	NM_001376571.1(MADD):c.1705+15C>T	MADD	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3121983	NM_001376571.1(MADD):c.1765C>A (p.Pro589Thr)	MADD (P521T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2479587	NM_001376571.1(MADD):c.1768A>G (p.Ile590Val)	MADD (I522V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2689390	NM_001376571.1(MADD):c.1778G>A (p.Arg593His)	MADD (R371H +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 782125	NM_001376571.1(MADD):c.1792A>G (p.Asn598Asp)	MADD (N598D +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3121984	NM_001376571.1(MADD):c.1793A>G (p.Asn598Ser)	MADD (N530S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 723531	NM_001376571.1(MADD):c.1806T>A (p.Ala602=)	MADD	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 2433596	NM_001376571.1(MADD):c.1811C>G (p.Ala604Gly)	MADD (A382G +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2576906	NM_001376571.1(MADD):c.1831C>T (p.Arg611Trp)	MADD (R389W +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2618643	NM_001376571.1(MADD):c.1853C>G (p.Thr618Ser)	MADD (T550S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3024973	NM_001376571.1(MADD):c.1854T>G (p.Thr618=)	MADD	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1701714	NM_001376571.1(MADD):c.1943G>T (p.Cys648Phe)	MADD (C426F +2 more)	Single nucleotide variant (missense variant +1 more)	MADD-related condition +2 more	GUncertain significance
Select item 3065470	NM_001376571.1(MADD):c.1966A>T (p.Asn656Tyr)	MADD (N434Y +3 more)	Single nucleotide variant (missense variant +1 more)	Deeah syndrome	GUncertain significance
Select item 3065471	NM_001376571.1(MADD):c.1967A>G (p.Asn656Ser)	MADD (N434S +2 more)	Single nucleotide variant (missense variant +2 more)	Deeah syndrome	GLikely pathogenic
Select item 2532388	NM_001376571.1(MADD):c.1988C>T (p.Ala663Val)	MADD (A441V +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2577716	NM_001376571.1(MADD):c.2018T>C (p.Ile673Thr)	MADD (I451T +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2345807	NM_001376571.1(MADD):c.2023G>A (p.Glu675Lys)	MADD (E607K +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2251839	NM_001376571.1(MADD):c.2085C>G (p.Asn695Lys)	MADD (N473K +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1805852	NM_001376571.1(MADD):c.2090C>T (p.Pro697Leu)	MADD (P475L +3 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia	GUncertain significance
Select item 1175794	NM_001376571.1(MADD):c.2096G>A (p.Arg699His)	MADD (R477H +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2224670	NM_001376571.1(MADD):c.2104T>A (p.Ser702Thr)	MADD (S480T +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3025582	NM_001376571.1(MADD):c.2106T>G (p.Ser702=)	MADD	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2433593	NM_001376571.1(MADD):c.2123G>A (p.Ser708Asn)	MADD (S486N +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2397097	NM_001376571.1(MADD):c.2156C>G (p.Ser719Cys)	MADD (S651C +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2294799	NM_001376571.1(MADD):c.2200G>A (p.Gly734Ser)	MADD (G512S +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2297991	NM_001376571.1(MADD):c.2222C>A (p.Ser741Tyr)	MADD (S673Y +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3026028	NM_001376571.1(MADD):c.2241C>T (p.Gly747=)	MADD	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1276052	NM_001376571.1(MADD):c.2251G>A (p.Val751Met)	MADD (V529M +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign

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