2006[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 154461	GRCh38/hg38 7q11.21-11.23(chr7:62736364-75432710)x1	LOC129998564, LOC129998565 +351 more	Copy number loss	See cases	GPathogenic
Select item 154104	GRCh38/hg38 7q11.21-11.23(chr7:62977085-75415352)x3	ABHD11, ABHD11-AS1 +350 more	Copy number gain	See cases	GPathogenic
Select item 60237	GRCh38/hg38 7q11.22-11.23(chr7:69382353-77823832)x1	SPDYE12, SPDYE13 +330 more	Copy number loss	See cases	GPathogenic
Select item 57096	GRCh38/hg38 7q11.22-21.11(chr7:71225344-81735657)x1	ABHD11, ABHD11-AS1 +317 more	Copy number loss	See cases	GPathogenic
Select item 155387	GRCh38/hg38 7q11.22-21.11(chr7:72179092-79164071)	ABHD11, ABHD11-AS1 +285 more	Copy number gain	See cases	GLikely pathogenic
Select item 58217	GRCh38/hg38 7q11.22-11.23(chr7:72649515-75361855)x3	ABHD11, ABHD11-AS1 +162 more	Copy number gain	See cases	GPathogenic
Select item 58218	GRCh38/hg38 7q11.23(chr7:72768821-74869255)x3	ABHD11, ABHD11-AS1 +147 more	Copy number gain	See cases	GPathogenic
Select item 57313	GRCh38/hg38 7q11.23(chr7:72930548-74869255)x1	ABHD11, ABHD11-AS1 +141 more	Copy number loss	See cases	GPathogenic
Select item 147066	GRCh38/hg38 7q11.23(chr7:72938064-74779028)x3	ABHD11, ABHD11-AS1 +140 more	Copy number gain	See cases	GPathogenic
Select item 148663	GRCh38/hg38 7q11.23(chr7:73040501-75255046)x3	ABHD11, ABHD11-AS1 +148 more	Copy number gain	See cases	GPathogenic
Select item 146414	GRCh38/hg38 7q11.23(chr7:73040501-75255046)x3	ABHD11, ABHD11-AS1 +148 more	Copy number gain	See cases	GUncertain significance
Select item 59305	GRCh38/hg38 7q11.23(chr7:73096542-74727989)x1	ABHD11, ABHD11-AS1 +133 more	Copy number loss	See cases	GPathogenic
Select item 153242	GRCh38/hg38 7q11.23(chr7:73175475-74740268)x3	ABHD11, ABHD11-AS1 +132 more	Copy number gain	See cases	GPathogenic
Select item 152064	GRCh38/hg38 7q11.23(chr7:73192369-74883978)x3	ABHD11, ABHD11-AS1 +134 more	Copy number gain	See cases	GPathogenic
Select item 150322	GRCh38/hg38 7q11.23(chr7:73192369-74869255)x1	ABHD11, ABHD11-AS1 +134 more	Copy number loss	See cases	GPathogenic
Select item 149044	GRCh38/hg38 7q11.23(chr7:73192369-74779057)x1	ABHD11, ABHD11-AS1 +133 more	Copy number loss	See cases	GPathogenic
Select item 149043	GRCh38/hg38 7q11.23(chr7:73192369-74779057)x3	LOC129998592, LOC129998593 +133 more	Copy number gain	See cases	GPathogenic
Select item 2505469	Single allele	ABHD11, ABHD11-AS1 +132 more	Deletion	Williams syndrome	GPathogenic
Select item 2499666	GRCh38/hg38 7q11.23(chr7:73229597-74727852)	ABHD11, ABHD11-AS1 +131 more	Copy number loss	Williams syndrome	GPathogenic
Select item 3236844	GRCh38/hg38 7q11.23(chr7:73247356-74727974)x3	ABHD11, ABHD11-AS1 +130 more	Copy number gain	7q11.23 microduplication syndrome	GPathogenic
Select item 149310	GRCh38/hg38 7q11.23(chr7:73271690-74727989)x1	ABHD11, ABHD11-AS1 +130 more	Copy number loss	See cases	GPathogenic
Select item 155323	GRCh38/hg38 7q11.23(chr7:73280574-74728722)x3	LOC129998592, LOC129998593 +129 more	Copy number gain	See cases	GPathogenic
Select item 154347	GRCh38/hg38 7q11.23(chr7:73280574-74789341)x1	ABHD11, ABHD11-AS1 +131 more	Copy number loss	See cases	GPathogenic
Select item 153973	GRCh38/hg38 7q11.23(chr7:73280574-74727918)x1	ABHD11, ABHD11-AS1 +129 more	Copy number loss	See cases	GPathogenic
Select item 150236	GRCh38/hg38 7q11.23(chr7:73280574-74779057)x3	ABHD11, ABHD11-AS1 +131 more	Copy number gain	See cases	GPathogenic
Select item 149309	GRCh38/hg38 7q11.23(chr7:73280574-74727989)x3	ABHD11, ABHD11-AS1 +129 more	Copy number gain	See cases	GPathogenic
Select item 147170	GRCh38/hg38 7q11.23(chr7:73280574-74924007)x1	ABHD11, ABHD11-AS1 +133 more	Copy number loss	See cases	GPathogenic
Select item 59315	GRCh38/hg38 7q11.23(chr7:73280574-74723034)x1	ABHD11, ABHD11-AS1 +129 more	Copy number loss	See cases	GPathogenic
Select item 58238	GRCh38/hg38 7q11.23(chr7:73280574-74839100)x3	ABHD11, ABHD11-AS1 +132 more	Copy number gain	See cases	GPathogenic
Select item 58237	GRCh38/hg38 7q11.23(chr7:73280574-74725240)x3	ABHD11, ABHD11-AS1 +129 more	Copy number gain	See cases	GPathogenic
Select item 58219	GRCh38/hg38 7q11.23(chr7:73280574-74725240)x3	ABHD11, ABHD11-AS1 +129 more	Copy number gain	See cases	GPathogenic
Select item 154259	GRCh38/hg38 7q11.23(chr7:73286125-74732517)x3	DNAJC30, EIF4H +129 more	Copy number gain	See cases	GPathogenic
Select item 154824	GRCh38/hg38 7q11.23(chr7:73286412-74758583)x1	ABHD11, ABHD11-AS1 +130 more	Copy number loss	See cases	GPathogenic
Select item 151986	GRCh38/hg38 7q11.23(chr7:73286412-74779057)x1	ABHD11, ABHD11-AS1 +131 more	Copy number loss	See cases	GPathogenic
Select item 151015	GRCh38/hg38 7q11.23(chr7:73286412-74869255)x1	ABHD11, ABHD11-AS1 +132 more	Copy number loss	See cases	GPathogenic
Select item 149308	GRCh38/hg38 7q11.23(chr7:73286412-74727989)x1	ABHD11, ABHD11-AS1 +129 more	Copy number loss	See cases	GPathogenic
Select item 59319	GRCh38/hg38 7q11.23(chr7:73286412-74707848)x1	ABHD11, ABHD11-AS1 +129 more	Copy number loss	See cases	GPathogenic
Select item 59318	GRCh38/hg38 7q11.23(chr7:73286412-74725240)x1	ABHD11, ABHD11-AS1 +129 more	Copy number loss	See cases	GPathogenic
Select item 59317	GRCh38/hg38 7q11.23(chr7:73286412-74725240)x3	ABHD11, ABHD11-AS1 +129 more	Copy number gain	See cases	GPathogenic
Select item 59316	GRCh38/hg38 7q11.23(chr7:73286412-74723034)x1	EIF4H, ELN +129 more	Copy number loss	See cases	GPathogenic
Select item 154080	GRCh38/hg38 7q11.23(chr7:73286508-74727852)x1	ABHD11, ABHD11-AS1 +129 more	Copy number loss	See cases	GPathogenic
Select item 153978	GRCh38/hg38 7q11.23(chr7:73286522-74727156)x1	ABHD11, ABHD11-AS1 +129 more	Copy number loss	See cases	GPathogenic
Select item 3252027	NC_000007.14:g.(?_73303398)_(74735532_?)del	ABHD11, ABHD11-AS1 +130 more	Deletion	Williams syndrome	GLikely pathogenic
Select item 144925	GRCh38/hg38 7q11.23(chr7:73304255-74718954)x1	ABHD11, ABHD11-AS1 +129 more	Copy number loss	See cases	GPathogenic
Select item 2574138	NC_000007.14:g.73304277_74727414del	ABHD11, ABHD11-AS1 +129 more	Deletion	Williams syndrome	GPathogenic
Select item 155565	GRCh38/hg38 7q11.23(chr7:73304280-74727852)x1	ABHD11, ABHD11-AS1 +129 more	Copy number loss	See cases	GPathogenic
Select item 58239	GRCh38/hg38 7q11.23(chr7:73312575-74723034)x3	ABHD11, ABHD11-AS1 +128 more	Copy number gain	See cases	GPathogenic
Select item 147629	GRCh38/hg38 7q11.23(chr7:73312582-74725057)x1	LOC129998612, LOC129998613 +128 more	Copy number loss	See cases	GPathogenic
Select item 545349	Single allele	ABHD11, ABHD11-AS1 +128 more	Duplication	Schizophrenia	GPathogenic
Select item 545350	Single allele	ABHD11, ABHD11-AS1 +128 more	Duplication	Autism	GPathogenic
Select item 59321	GRCh38/hg38 7q11.23(chr7:73352104-74719154)x1	ABHD11, ABHD11-AS1 +127 more	Copy number loss	See cases	GPathogenic
Select item 59320	GRCh38/hg38 7q11.23(chr7:73352104-74719154)x3	EIF4H, ELN +127 more	Copy number gain	See cases	GPathogenic
Select item 146838	GRCh38/hg38 7q11.23(chr7:73352303-74924023)x1	LOC129998611, LOC129998612 +131 more	Copy number loss	See cases	GPathogenic
Select item 146807	GRCh38/hg38 7q11.23(chr7:73352303-74719008)x1	ABHD11, ABHD11-AS1 +127 more	Copy number loss	See cases	GPathogenic
Select item 146803	GRCh38/hg38 7q11.23(chr7:73352303-74719008)x3	ABHD11, ABHD11-AS1 +127 more	Copy number gain	See cases	GPathogenic
Select item 146774	GRCh38/hg38 7q11.23(chr7:73352303-74779051)x1	ABHD11, ABHD11-AS1 +129 more	Copy number loss	See cases	GPathogenic
Select item 160898	GRCh38/hg38 7q11.23(chr7:73352304-74719013)x1	ABHD11, ABHD11-AS1 +127 more	Copy number loss	See cases	GPathogenic
Select item 160823	GRCh38/hg38 7q11.23(chr7:73352304-74924037)x1	ABHD11, ABHD11-AS1 +131 more	Copy number loss	See cases	GPathogenic
Select item 160822	GRCh38/hg38 7q11.23(chr7:73352304-74719013)x3	ABHD11, ABHD11-AS1 +127 more	Copy number gain	See cases	GPathogenic
Select item 154623	GRCh38/hg38 7q11.23(chr7:73352304-75065728)x3	LOC129998621, LOC129998622 +134 more	Copy number gain	See cases	GPathogenic
Select item 144156	GRCh38/hg38 7q11.23(chr7:73352304-76722261)x1	LOC129998696, LOC129998697 +219 more	Copy number loss	See cases	GPathogenic
Select item 57316	GRCh38/hg38 7q11.23(chr7:73352304-74869255)x1	ABHD11, ABHD11-AS1 +130 more	Copy number loss	See cases	GPathogenic
Select item 33969	GRCh38/hg38 7q11.23(chr7:73352304-74924037)x1	ABHD11, ABHD11-AS1 +131 more	Copy number loss	See cases	GPathogenic
Select item 32643	GRCh38/hg38 7q11.23(chr7:73352304-74719013)x1	ABHD11, ABHD11-AS1 +127 more	Copy number loss	See cases	GPathogenic
Select item 32380	GRCh38/hg38 7q11.23(chr7:73352304-74719013)x3	ABHD11, ABHD11-AS1 +127 more	Copy number gain	See cases	GPathogenic
Select item 149956	GRCh38/hg38 7q11.23(chr7:73755813-74133404)x3	CLDN3, CLDN4 +22 more	Copy number gain	See cases	GUncertain significance
Select item 154350	GRCh38/hg38 7q11.23(chr7:73755831-74131326)x1	CLDN3, CLDN4 +22 more	Copy number loss	See cases	GPathogenic
Select item 60244	GRCh38/hg38 7q11.23-21.11(chr7:73873420-83988860)x1	APTR, CACNA2D1 +249 more	Copy number loss	See cases	GPathogenic
Select item 360633	NM_000501.3(ELN):c.-70G>C	ELN	Single nucleotide variant	Supravalvar aortic stenosis +3 more	GUncertain significance
Select item 213168	NM_000501.3(ELN):c.-38C>T	ELN	Single nucleotide variant	Supravalvar aortic stenosis +1 more	GBenign
Select item 508478	NM_000501.3(ELN):c.-37G>C	ELN	Single nucleotide variant	not specified	GLikely benign
Select item 3251672	NM_000501.4(ELN):c.-3G>A	ELN	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 2735031	NM_000501.4(ELN):c.1A>G (p.Met1Val)	ELN (M1V)	Single nucleotide variant (missense variant +1 more)	Supravalvar aortic stenosis	GPathogenic
Select item 213185	NM_000501.4(ELN):c.2T>C (p.Met1Thr)	ELN (M1T)	Single nucleotide variant (missense variant +1 more)	Supravalvar aortic stenosis +1 more	GPathogenic/Likely pathogenic
Select item 2073153	NM_000501.4(ELN):c.5C>T (p.Ala2Val)	ELN (A2V)	Single nucleotide variant (missense variant)	Supravalvar aortic stenosis	GUncertain significance
Select item 2107196	NM_000501.4(ELN):c.6G>C (p.Ala2=)	ELN	Single nucleotide variant (synonymous variant)	Supravalvar aortic stenosis	GLikely benign
Select item 1072853	NM_000501.4(ELN):c.8del (p.Gly3fs)	ELN (G3fs)	Deletion (frameshift variant)	Supravalvar aortic stenosis	GPathogenic
Select item 390210	NM_000501.4(ELN):c.6G>A (p.Ala2=)	ELN	Single nucleotide variant (synonymous variant)	Supravalvar aortic stenosis +1 more	GLikely benign
Select item 1043351	NM_000501.4(ELN):c.8G>A (p.Gly3Asp)	ELN (G3D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2818445	NM_000501.4(ELN):c.14C>G (p.Thr5Arg)	ELN (T5R)	Single nucleotide variant (missense variant)	Supravalvar aortic stenosis	GUncertain significance
Select item 2714512	NM_000501.4(ELN):c.15G>A (p.Thr5=)	ELN	Single nucleotide variant (synonymous variant)	Supravalvar aortic stenosis +1 more	GLikely benign
Select item 3013342	NM_000501.4(ELN):c.18G>C (p.Ala6=)	ELN	Single nucleotide variant (synonymous variant)	Supravalvar aortic stenosis	GLikely benign
Select item 568329	NM_000501.4(ELN):c.18G>A (p.Ala6=)	ELN	Single nucleotide variant (synonymous variant)	Supravalvar aortic stenosis +1 more	GConflicting classifications of pathogenicity
Select item 1301436	NM_000501.4(ELN):c.20C>T (p.Ala7Val)	ELN (A7V)	Single nucleotide variant (missense variant)	Supravalvar aortic stenosis +2 more	GUncertain significance
Select item 2689013	NM_000501.4(ELN):c.26C>T (p.Pro9Leu)	ELN (P9L)	Single nucleotide variant (missense variant)	Supravalvar aortic stenosis +1 more	GUncertain significance
Select item 3048172	NM_000501.4(ELN):c.27G>A (p.Pro9=)	ELN	Single nucleotide variant (synonymous variant)	ELN-related disorder	GLikely benign
Select item 2498057	NM_000501.4(ELN):c.28C>T (p.Arg10Trp)	ELN (R10W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2715649	NM_000501.4(ELN):c.33C>T (p.Pro11=)	ELN	Single nucleotide variant (synonymous variant)	Supravalvar aortic stenosis	GLikely benign
Select item 228665	NM_000501.4(ELN):c.34G>A (p.Gly12Arg)	ELN (G12R)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 872754	NM_000501.4(ELN):c.35G>T (p.Gly12Val)	ELN (G12V)	Single nucleotide variant (missense variant)	Cutis laxa, autosomal dominant 1 +3 more	GConflicting classifications of pathogenicity
Select item 163381	NM_000501.4(ELN):c.43dup (p.Leu15fs)	ELN (L15fs)	Duplication (frameshift variant)	Supravalvar aortic stenosis	GPathogenic
Select item 453330	NM_000501.4(ELN):c.42C>T (p.Leu14=)	ELN	Single nucleotide variant (synonymous variant)	Supravalvar aortic stenosis	GLikely benign
Select item 3337074	NM_000501.4(ELN):c.44T>C (p.Leu15Pro)	ELN (L15P)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1143207	NM_000501.4(ELN):c.45G>A (p.Leu15=)	ELN	Single nucleotide variant (synonymous variant)	Supravalvar aortic stenosis	GLikely benign
Select item 2139061	NM_000501.4(ELN):c.48C>G (p.Leu16=)	ELN	Single nucleotide variant (synonymous variant)	Supravalvar aortic stenosis	GLikely benign
Select item 2632324	NM_000501.4(ELN):c.53T>C (p.Leu18Pro)	ELN (L18P)	Single nucleotide variant (missense variant)	ELN-related disorder	GUncertain significance
Select item 1719085	NM_000501.4(ELN):c.53T>G (p.Leu18Arg)	ELN (L18R)	Single nucleotide variant (missense variant)	Supravalvar aortic stenosis	GUncertain significance
Select item 2574682	NM_000501.4(ELN):c.59del (p.Ile20fs)	ELN (I20fs)	Deletion (frameshift variant)	Supravalvar aortic stenosis	GPathogenic
Select item 2062156	NM_000501.4(ELN):c.61C>T (p.Leu21Phe)	ELN (L21F)	Single nucleotide variant (missense variant)	Supravalvar aortic stenosis	GUncertain significance

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