16410[HGNC] - 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 58552	GRCh38/hg38 7q11.22-11.23(chr7:68668307-73710276)x1	AUTS2, BAZ1B +117 more	Copy number loss	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 2628015	NM_032317.3(DNAJC30):c.610G>T (p.Glu204Ter)	DNAJC30	Single nucleotide variant (nonsense)	Leber-like hereditary optic neuropathy, autosomal recessive 1	GPathogenic
Select item 2657564	NM_032317.3(DNAJC30):c.603C>T (p.Leu201=)	DNAJC30	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2277440	NM_032317.3(DNAJC30):c.587G>A (p.Arg196Gln)	DNAJC30 (R196Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334639	NM_032317.3(DNAJC30):c.506A>G (p.Gln169Arg)	DNAJC30, LOC129998602 (Q169R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3341677	NM_032317.3(DNAJC30):c.480G>T (p.Thr160=)	DNAJC30, LOC129998602	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3084581	NM_032317.3(DNAJC30):c.457G>T (p.Ala153Ser)	DNAJC30 (A153S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084580	NM_032317.3(DNAJC30):c.404C>T (p.Pro135Leu)	DNAJC30 (P135L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2499044	NM_032317.3(DNAJC30):c.403C>T (p.Pro135Ser)	DNAJC30 (P135S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3273134	NM_032317.3(DNAJC30):c.398C>T (p.Pro133Leu)	DNAJC30 (P133L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2657565	NM_032317.3(DNAJC30):c.397C>T (p.Pro133Ser)	DNAJC30 (P133S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2472369	NM_032317.3(DNAJC30):c.374T>C (p.Val125Ala)	DNAJC30 (V125A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289343	NM_032317.3(DNAJC30):c.305G>C (p.Gly102Ala)	DNAJC30 (G102A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1171027	NM_032317.3(DNAJC30):c.302T>A (p.Leu101Gln)	DNAJC30 (L101Q)	Single nucleotide variant (missense variant)	Leber-like hereditary optic neuropathy, autosomal recessive 1	GPathogenic
Select item 1299584	NM_032317.3(DNAJC30):c.293A>C (p.Tyr98Ser)	DNAJC30 (Y98S)	Single nucleotide variant (missense variant)	Leber hereditary optic neuropathy, autosomal recessive	GLikely pathogenic
Select item 2339597	NM_032317.3(DNAJC30):c.243C>G (p.Asn81Lys)	DNAJC30 (N81K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3251975	NM_032317.3(DNAJC30):c.233C>G (p.Pro78Arg)	DNAJC30 (P78R)	Single nucleotide variant (missense variant)	Leber-like hereditary optic neuropathy, autosomal recessive 1	GUncertain significance
Select item 2628016	NM_032317.3(DNAJC30):c.227ACC[1] (p.His77del)	DNAJC30 (H77del)	Microsatellite (inframe_deletion)	Leber-like hereditary optic neuropathy, autosomal recessive 1	GPathogenic
Select item 1171026	NM_032317.3(DNAJC30):c.232C>T (p.Pro78Ser)	DNAJC30 (P78S)	Single nucleotide variant (missense variant)	Leber-like hereditary optic neuropathy, autosomal recessive 1	GPathogenic
Select item 976691	NM_032317.3(DNAJC30):c.152A>G (p.Tyr51Cys)	DNAJC30, LOC129998603 (Y51C)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 2546115	NM_032317.3(DNAJC30):c.149T>C (p.Leu50Pro)	DNAJC30, LOC129998603 (L50P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340665	NM_032317.3(DNAJC30):c.146C>G (p.Ala49Gly)	DNAJC30, LOC129998603 (A49G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2628014	NM_032317.3(DNAJC30):c.130_131del (p.Ser44fs)	DNAJC30, LOC129998603 (S44fs)	Deletion (frameshift variant)	Leber-like hereditary optic neuropathy, autosomal recessive 1	GPathogenic
Select item 3052917	NM_032317.3(DNAJC30):c.114T>C (p.Tyr38=)	DNAJC30, LOC129998603	Single nucleotide variant (synonymous variant)	DNAJC30-related disorder	GLikely benign
Select item 1254123	NM_032317.3(DNAJC30):c.100G>A (p.Gly34Arg)	DNAJC30, LOC129998603 (G34R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3273133	NM_032317.3(DNAJC30):c.71C>T (p.Pro24Leu)	DNAJC30, LOC129998603 (P24L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279868	NM_032317.3(DNAJC30):c.59C>T (p.Ala20Val)	DNAJC30, LOC129998603 (A20V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288756	NM_032317.3(DNAJC30):c.38T>C (p.Leu13Ser)	DNAJC30 (L13S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2628724	NM_032317.3(DNAJC30):c.24G>A (p.Trp8Ter)	DNAJC30 (W8*)	Single nucleotide variant (nonsense)	DNAJC30-related disorder	GLikely pathogenic
Select item 3148885	GRCh37/hg19 7q11.23(chr7:72701099-74186150)x3	ABHD11, ABHD11-AS1 +25 more	Copy number gain	not provided	GPathogenic
Select item 3062986	GRCh37/hg19 7q11.21-11.23(chr7:66776724-74629034)x3	ABHD11, ABHD11-AS1 +35 more	Copy number gain	not specified	GPathogenic
Select item 3062971	GRCh37/hg19 7q11.23(chr7:72732819-76003862)x3	ABHD11, ABHD11-AS1 +43 more	Copy number gain	not specified	GPathogenic
Select item 2684488	GRCh37/hg19 7q11.23(chr7:72547476-74263704)x3	NCF1, NSUN5 +27 more	Copy number gain	not provided	GPathogenic

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