6905[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155660	GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3	ABCB10, ACBD3 +1428 more	Copy number gain	See cases	GPathogenic
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	LOC120908923, LOC120947224 +1352 more	Copy number gain	See cases	GPathogenic
Select item 145652	GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3	ABCB10, ACBD3 +1326 more	Copy number gain	See cases	GPathogenic
Select item 57302	GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3	LOC129932855, LOC129932856 +1168 more	Copy number gain	See cases	GPathogenic
Select item 57010	GRCh38/hg38 1q41-44(chr1:223347693-248918469)x3	TARBP1, TBCE +968 more	Copy number gain	See cases	GPathogenic
Select item 146575	GRCh38/hg38 1q41-44(chr1:223815147-248918469)x3	LINC02765, LINC02768 +955 more	Copy number gain	See cases	GPathogenic
Select item 58133	GRCh38/hg38 1q41-44(chr1:223828500-248891309)x3	LOC440742, LYPD8 +955 more	Copy number gain	See cases	GPathogenic
Select item 58135	GRCh38/hg38 1q41-44(chr1:223887780-248891309)x3	ABCB10, ACBD3 +953 more	Copy number gain	See cases	GPathogenic
Select item 148701	GRCh38/hg38 1q42.11-44(chr1:224022862-248918469)x3	LOC129932825, LOC129932826 +952 more	Copy number gain	See cases	GPathogenic
Select item 58137	GRCh38/hg38 1q42.11-44(chr1:224096488-248918469)x3	LOC129932658, LOC129932659 +950 more	Copy number gain	See cases	GPathogenic
Select item 154381	GRCh38/hg38 1q42.12-44(chr1:225438480-248787200)x3	LOC126806053, LOC126806054 +870 more	Copy number gain	See cases	GPathogenic
Select item 147487	GRCh38/hg38 1q42.13-44(chr1:229022909-248918469)x3	ABCB10, ACTA1 +656 more	Copy number gain	See cases	GPathogenic
Select item 57387	GRCh38/hg38 1q42.13-44(chr1:230106271-243677283)x1	ACTN2, AGT +378 more	Copy number loss	See cases	GPathogenic
Select item 2579289	GRCh38/hg38 1q42.13-44(chr1:230178121-243646135)x1	ACTN2, AGT +369 more	Copy number loss	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	GPathogenic
Select item 1707457	Single allele	LOC129388781, LOC129932784 +123 more	Duplication	not specified	GUncertain significance
Select item 2577840	NC_000001.11:g.(233502994_233518999)_(236093155_236105019)del	ARID4B, B3GALNT2 +162 more	Deletion	Immunodeficiency, common variable, 14	GPathogenic
Select item 147069	GRCh38/hg38 1q42.3(chr1:234802578-235914149)x3	ARID4B, B3GALNT2 +75 more	Copy number gain	See cases	GUncertain significance
Select item 2579286	GRCh38/hg38 1q42.3-44(chr1:235215476-247005888)x1	ACTN2, ADSS2 +271 more	Copy number loss	Intellectual disability, autosomal dominant 22	GPathogenic
Select item 296285	NM_003193.5(TBCE):c.-93T>A	TBCE	Single nucleotide variant (5 prime UTR variant)	Hypoparathyroidism-retardation-dysmorphism syndrome	GLikely benign
Select item 296286	NM_003193.5(TBCE):c.-92C>G	TBCE	Single nucleotide variant (5 prime UTR variant)	Hypoparathyroidism-retardation-dysmorphism syndrome	GUncertain significance
Select item 296287	NM_003193.5(TBCE):c.-68G>C	TBCE	Single nucleotide variant (5 prime UTR variant)	Hypoparathyroidism-retardation-dysmorphism syndrome	GUncertain significance
Select item 296288	NM_003193.5(TBCE):c.-49T>C	TBCE	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 1174300	NM_003193.5(TBCE):c.-31-55dup	TBCE	Duplication (intron variant)	not provided	GBenign
Select item 2506290	NM_003193.5(TBCE):c.2T>A (p.Met1Lys)	TBCE (M1K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2486709	NM_003193.5(TBCE):c.7G>T (p.Asp3Tyr)	TBCE (D3Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2919023	NM_003193.5(TBCE):c.21G>A (p.Ala7=)	TBCE	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2870059	NM_003193.5(TBCE):c.22del (p.Asp8fs)	TBCE (D8fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2180668	NM_003193.5(TBCE):c.33T>C (p.Gly11=)	TBCE	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1411006	NM_003193.5(TBCE):c.35G>A (p.Arg12Gln)	TBCE (R12Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2809983	NM_003193.5(TBCE):c.51T>C (p.Asn17=)	TBCE	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2088357	NM_003193.5(TBCE):c.58C>T (p.His20Tyr)	TBCE (H20Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 5291	NM_003193.5(TBCE):c.66_67del (p.Val23fs)	TBCE (V23fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 874592	NM_003193.5(TBCE):c.70C>T (p.Arg24Cys)	TBCE (R24C)	Single nucleotide variant (missense variant +1 more)	Hypoparathyroidism-retardation-dysmorphism syndrome	GUncertain significance
Select item 1033981	NM_003193.5(TBCE):c.71G>A (p.Arg24His)	TBCE (R24H)	Single nucleotide variant (missense variant +1 more)	Encephalopathy, progressive, with amyotrophy and optic atrophy +3 more	GUncertain significance
Select item 2972599	NM_003193.5(TBCE):c.75T>C (p.Phe25=)	TBCE	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1426571	NM_003193.5(TBCE):c.83T>G (p.Val28Gly)	TBCE (V28G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2581090	NM_003193.5(TBCE):c.89C>T (p.Pro30Leu)	TBCE (P30L)	Single nucleotide variant (missense variant +1 more)	Pituitary stalk interruption syndrome	GUncertain significance
Select item 2970700	NM_003193.5(TBCE):c.93C>T (p.Pro31=)	TBCE	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1927957	NM_003193.5(TBCE):c.93C>G (p.Pro31=)	TBCE	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 631595	NM_003193.5(TBCE):c.100+1G>A	TBCE	Single nucleotide variant (splice donor variant)	Hypoparathyroidism-retardation-dysmorphism syndrome +3 more	GConflicting classifications of pathogenicity
Select item 595734	NM_003193.5(TBCE):c.100+6C>T	TBCE	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2958092	NM_003193.5(TBCE):c.100+11_100+15del	TBCE	Deletion (intron variant)	not provided	GLikely benign
Select item 2894565	NM_003193.5(TBCE):c.100+11_100+31del	TBCE	Deletion (intron variant)	not provided	GLikely benign
Select item 2822750	NM_003193.5(TBCE):c.100+11_100+29del	TBCE	Deletion (intron variant)	not provided	GLikely benign
Select item 2778506	NM_003193.5(TBCE):c.100+11_100+17del	TBCE	Deletion (intron variant)	not provided	GLikely benign
Select item 1347910	NM_003193.5(TBCE):c.100+11_100+27del	TBCE	Deletion (intron variant)	not provided	GLikely benign
Select item 1620471	NM_003193.5(TBCE):c.100+12_100+17del	TBCE	Deletion (intron variant)	not provided	GLikely benign
Select item 296290	NM_003193.5(TBCE):c.100+13TG[28]	TBCE	Microsatellite (intron variant)	Hypoparathyroidism-retardation-dysmorphism syndrome +1 more	GConflicting classifications of pathogenicity
Select item 296289	NM_003193.5(TBCE):c.100+13TG[27]	TBCE	Microsatellite (intron variant)	Hypoparathyroidism-retardation-dysmorphism syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1656193	NM_003193.5(TBCE):c.100+13TG[21]	TBCE	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1610650	NM_003193.5(TBCE):c.100+13TG[12]	TBCE	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1608290	NM_003193.5(TBCE):c.100+13TG[13]	TBCE	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1608272	NM_003193.5(TBCE):c.100+13TG[23]	TBCE	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1601254	NM_003193.5(TBCE):c.100+13TG[24]	TBCE	Microsatellite (intron variant)	not provided	GBenign
Select item 1572336	NM_003193.5(TBCE):c.100+13TG[14]	TBCE	Microsatellite (intron variant)	not provided	GBenign
Select item 1563247	NM_003193.5(TBCE):c.100+13TG[22]	TBCE	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1553863	NM_003193.5(TBCE):c.100+13TG[11]	TBCE	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1459272	NM_003193.5(TBCE):c.100+13TG[20]	TBCE	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1259378	NM_003193.5(TBCE):c.100+13TG[16]	TBCE	Microsatellite (intron variant)	not provided	GBenign
Select item 1245486	NM_003193.5(TBCE):c.100+13TG[19]	TBCE	Microsatellite (intron variant)	not provided	GBenign
Select item 1232644	NM_003193.5(TBCE):c.100+13TG[18]	TBCE	Microsatellite (intron variant)	not provided	GBenign
Select item 1221862	NM_003193.5(TBCE):c.100+13TG[15]	TBCE	Microsatellite (intron variant)	not provided	GBenign
Select item 403520	NM_003193.5(TBCE):c.100+13TG[17]	TBCE	Microsatellite (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 296292	NM_003193.5(TBCE):c.100+13T>G	TBCE	Single nucleotide variant (intron variant)	Hypoparathyroidism-retardation-dysmorphism syndrome +1 more	GBenign/Likely benign
Select item 296291	NM_003193.5(TBCE):c.100+13TG[25]	TBCE	Microsatellite (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 296293	NM_003193.5(TBCE):c.100+15T>G	TBCE	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1612905	NM_003193.5(TBCE):c.100+17T>G	TBCE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1621128	NM_003193.5(TBCE):c.100+19T>G	TBCE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 147606	GRCh38/hg38 1q42.3-43(chr1:235387992-237270632)x3	ACTN2, B3GALNT2 +88 more	Copy number gain	See cases	GPathogenic
Select item 2985921	NM_003193.5(TBCE):c.101-19G>T	TBCE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2905758	NM_003193.5(TBCE):c.101-7C>T	TBCE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 725798	NM_003193.5(TBCE):c.101-5G>A	TBCE	Single nucleotide variant (intron variant)	Hypoparathyroidism-retardation-dysmorphism syndrome +1 more	GBenign/Likely benign
Select item 1368854	NM_003193.5(TBCE):c.101-2A>G	TBCE	Single nucleotide variant (splice acceptor variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1297492	NM_003193.5(TBCE):c.101-1G>C	TBCE	Single nucleotide variant (splice acceptor variant +1 more)	not provided	GPathogenic
Select item 520626	NM_003193.5(TBCE):c.101G>C (p.Gly34Ala)	TBCE (G34A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely pathogenic
Select item 2877905	NM_003193.5(TBCE):c.105C>T (p.Pro35=)	TBCE	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1568395	NM_003193.5(TBCE):c.133G>A (p.Glu45Lys)	TBCE (E45K)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 1976530	NM_003193.5(TBCE):c.135G>C (p.Glu45Asp)	TBCE (E45D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 225483	NM_003193.5(TBCE):c.143_144del (p.Lys48fs)	TBCE (K48fs)	Deletion (frameshift variant +1 more)	Hypoparathyroidism-retardation-dysmorphism syndrome +2 more	GPathogenic/Likely pathogenic
Select item 2955084	NM_003193.5(TBCE):c.147T>C (p.His49=)	TBCE	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3324772	NM_003193.5(TBCE):c.149A>G (p.Asp50Gly)	TBCE (D50G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2041612	NM_003193.5(TBCE):c.150T>C (p.Asp50=)	TBCE	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 5290	NM_003193.5(TBCE):c.155_166del (p.Ser52_Gly55del)	TBCE	Deletion (inframe_deletion +1 more)	Encephalopathy, progressive, with amyotrophy and optic atrophy +2 more	GPathogenic/Likely pathogenic
Select item 1299233	NM_003193.5(TBCE):c.155G>A (p.Ser52Asn)	TBCE (S52N)	Single nucleotide variant (missense variant +1 more)	Hypoparathyroidism-retardation-dysmorphism syndrome	GUncertain significance
Select item 2191339	NM_003193.5(TBCE):c.157C>T (p.His53Tyr)	TBCE (H53Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 752655	NM_003193.5(TBCE):c.159C>T (p.His53=)	TBCE	Single nucleotide variant (synonymous variant +1 more)	Hypoparathyroidism-retardation-dysmorphism syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2711622	NM_003193.5(TBCE):c.165G>A (p.Gly55=)	TBCE	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2840485	NM_003193.5(TBCE):c.185+12T>G	TBCE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2789442	NM_003193.5(TBCE):c.185+18A>G	TBCE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1225121	NM_003193.5(TBCE):c.185+22G>T	TBCE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2978880	NM_003193.5(TBCE):c.186-15G>A	TBCE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2828330	NM_003193.5(TBCE):c.186-4C>T	TBCE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2862590	NM_003193.5(TBCE):c.186-2A>G	TBCE	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 3015908	NM_003193.5(TBCE):c.189C>T (p.His63=)	TBCE	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1016460	NM_003193.5(TBCE):c.190C>T (p.Pro64Ser)	TBCE (P64S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 593372	NM_003193.5(TBCE):c.191C>T (p.Pro64Leu)	TBCE (P64L)	Single nucleotide variant (missense variant +1 more)	Hypoparathyroidism-retardation-dysmorphism syndrome +2 more	GLikely benign
Select item 2995679	NM_003193.5(TBCE):c.192G>A (p.Pro64=)	TBCE	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2976292	NM_003193.5(TBCE):c.192G>T (p.Pro64=)	TBCE	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1409783	NM_003193.5(TBCE):c.194C>T (p.Thr65Ile)	TBCE (T65I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 284950	NM_003193.5(TBCE):c.194C>A (p.Thr65Lys)	TBCE (T65K)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity

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