16407[HGNC] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 193

<< First< Prev

Page of 2

	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 60243	GRCh38/hg38 7q11.23(chr7:73614671-73942928)x1	ABHD11, ABHD11-AS1 +34 more	Copy number loss	See cases	GPathogenic
Select item 2532526	NM_148912.4(ABHD11):c.902T>C (p.Ile301Thr)	ABHD11 (I197T +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3317023	NM_148912.4(ABHD11):c.894A>G (p.Ile298Met)	ABHD11 (I241M +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3316918	NM_148912.4(ABHD11):c.878G>A (p.Arg293His)	ABHD11 (R236H +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3130214	NM_148912.4(ABHD11):c.842C>T (p.Thr281Met)	ABHD11 (T224M +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2247158	NM_148912.4(ABHD11):c.815G>A (p.Arg272Gln)	ABHD11 (R215Q +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3317229	NM_148912.4(ABHD11):c.791C>G (p.Pro264Arg)	ABHD11 (P257R +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3317128	NM_148912.4(ABHD11):c.648G>C (p.Glu216Asp)	ABHD11 (E209D +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2600633	NM_148912.4(ABHD11):c.647A>G (p.Glu216Gly)	ABHD11 (E112G +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2248633	NM_148912.4(ABHD11):c.635C>T (p.Thr212Ile)	ABHD11 (T155I +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2483334	NM_148912.4(ABHD11):c.620G>A (p.Arg207Gln)	ABHD11 (R103Q +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3130196	NM_148912.4(ABHD11):c.619C>T (p.Arg207Trp)	ABHD11 (R103W +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2208542	NM_148912.4(ABHD11):c.616G>A (p.Val206Met)	ABHD11 (V149M +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2508624	NM_148912.4(ABHD11):c.563G>A (p.Arg188His)	ABHD11 (R181H +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2258171	NM_148912.4(ABHD11):c.563G>T (p.Arg188Leu)	ABHD11 (R84L +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2273795	NM_148912.4(ABHD11):c.457A>G (p.Ile153Val)	ABHD11 (I153V +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2408350	NM_148912.4(ABHD11):c.451C>T (p.Arg151Cys)	ABHD11 (R151C +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2315188	NM_148912.4(ABHD11):c.432G>C (p.Gln144His)	ABHD11 (Q144H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2616650	NM_148912.4(ABHD11):c.427C>G (p.Leu143Val)	ABHD11 (L136V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2467092	NM_148912.4(ABHD11):c.401G>A (p.Gly134Glu)	ABHD11 (G127E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 973062	NM_148912.4(ABHD11):c.397A>G (p.Met133Val)	ABHD11 (M126V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	Gnot provided
Select item 2304102	NM_148912.4(ABHD11):c.385G>A (p.Val129Ile)	ABHD11 (V25I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3130164	NM_148912.4(ABHD11):c.379G>A (p.Val127Ile)	ABHD11 (V23I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3130158	NM_148912.4(ABHD11):c.356C>T (p.Pro119Leu)	ABHD11 (P119L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2509015	NM_148912.4(ABHD11):c.286C>G (p.His96Asp)	ABHD11 (H89D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2298870	NM_148912.4(ABHD11):c.269C>G (p.Thr90Arg)	ABHD11 (T83R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3130154	NM_148912.4(ABHD11):c.242C>T (p.Ala81Val)	ABHD11 (A81V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3130153	NM_148912.4(ABHD11):c.214A>G (p.Asn72Asp)	ABHD11 (N65D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2610371	NM_148912.4(ABHD11):c.201C>A (p.Phe67Leu)	ABHD11 (F67L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2285846	NM_148912.4(ABHD11):c.158G>T (p.Gly53Val)	ABHD11 (G53V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2289891	NM_148912.4(ABHD11):c.146G>A (p.Arg49Lys)	ABHD11 (R49K +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3130143	NM_148912.4(ABHD11):c.76C>T (p.Pro26Ser)	ABHD11 (P26S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2296397	NM_148912.4(ABHD11):c.50C>G (p.Pro17Arg)	ABHD11 (P17R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3148885	GRCh37/hg19 7q11.23(chr7:72701099-74186150)x3	ABHD11, ABHD11-AS1 +25 more	Copy number gain	not provided	GPathogenic

<< First< Prev

Page of 2