25871[geneid] - ClinVar

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Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	PDIA5, PHLDB2 +1344 more	Copy number gain	See cases	GPathogenic
Select item 145994	GRCh38/hg38 3q11.1-13.31(chr3:93819623-116887056)x1	ABHD10, ABI3BP +431 more	Copy number loss	See cases	GPathogenic
Select item 57803	GRCh38/hg38 3q11.1-21.1(chr3:93886671-123216683)x1	TRAT1, TRMT10C +638 more	Copy number loss	See cases	GPathogenic
Select item 2579175	GRCh38/hg38 3q11.1-21.2(chr3:93979547-124774010)x1	CCDC54-AS1, LOC123002328 +682 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
Select item 149128	GRCh38/hg38 3q11.2-13.31(chr3:97795369-115663349)x1	ABHD10, ABI3BP +398 more	Copy number loss	See cases	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 57980	GRCh38/hg38 3q13.11-13.31(chr3:104621220-116093884)x3	LOC132088858, LOC132088860 +248 more	Copy number gain	See cases	GPathogenic
Select item 57804	GRCh38/hg38 3q13.13-13.31(chr3:108242572-116169331)x1	ABHD10, ATG3 +186 more	Copy number loss	See cases	GPathogenic
Select item 57131	GRCh38/hg38 3q13.2-13.31(chr3:112168829-117393356)x1	LOC129937247, LOC129937248 +127 more	Copy number loss	See cases	GPathogenic
Select item 154065	GRCh38/hg38 3q13.2-13.31(chr3:112425234-115795585)x1	ATG3, ATP6V1A +106 more	Copy number loss	See cases	GPathogenic
Select item 149415	GRCh38/hg38 3q13.2-13.31(chr3:112465094-115774111)x1	GAP43, GRAMD1C +105 more	Copy number loss	See cases	GPathogenic
Select item 146287	GRCh38/hg38 3q13.2-13.31(chr3:112465096-115774102)x1	LOC129937275, LOC129937276 +105 more	Copy number loss	See cases	GLikely pathogenic
Select item 57805	GRCh38/hg38 3q13.2-13.31(chr3:112479482-115774102)x1	ATG3, ATP6V1A +105 more	Copy number loss	See cases	GPathogenic
Select item 154658	GRCh38/hg38 3q13.2-13.33(chr3:112520553-120031022)x1	ADPRH, ARHGAP31 +191 more	Copy number loss	See cases	GPathogenic
Select item 150138	GRCh38/hg38 3q13.2-21.3(chr3:112620977-128734134)x1	LOC129937460, LOC129937461 +571 more	Copy number loss	See cases	GPathogenic
Select item 3042155	NM_015412.4(NEPRO):c.*5T>C	NEPRO	Single nucleotide variant (3 prime UTR variant +1 more)	NEPRO-related disorder	GLikely benign
Select item 1077143	NM_015412.4(NEPRO):c.1529G>T (p.Gly510Val)	NEPRO (G307V +6 more)	Single nucleotide variant (missense variant +1 more)	Abnormal cerebral white matter morphology +1 more	GUncertain significance
Select item 2654035	NM_015412.4(NEPRO):c.1374G>A (p.Gln458=)	GTPBP8, NEPRO	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 2634711	NM_015412.4(NEPRO):c.1353del (p.Leu451fs)	NEPRO (L248fs +6 more)	Deletion (frameshift variant +1 more)	NEPRO-related disorder	GUncertain significance
Select item 1077144	NM_015412.4(NEPRO):c.1168G>A (p.Ala390Thr)	NEPRO (A187T +6 more)	Single nucleotide variant (missense variant +1 more)	Abnormal cerebral white matter morphology +1 more	GUncertain significance
Select item 1192595	NM_015412.4(NEPRO):c.1069T>A (p.Phe357Ile)	NEPRO (F154I +6 more)	Single nucleotide variant (missense variant +1 more)	Anauxetic dysplasia 3	GBenign
Select item 3056605	NM_015412.4(NEPRO):c.1031C>A (p.Ser344Tyr)	NEPRO (S141Y +6 more)	Single nucleotide variant (missense variant +1 more)	NEPRO-related disorder	GBenign
Select item 719030	NM_015412.4(NEPRO):c.976_978del	NEPRO	Deletion (splice acceptor variant)	NEPRO-related disorder +1 more	GBenign/Likely benign
Select item 3037384	NM_015412.4(NEPRO):c.921A>G (p.Ser307=)	NEPRO	Single nucleotide variant (synonymous variant)	NEPRO-related disorder	GBenign
Select item 1176781	NM_015412.4(NEPRO):c.889G>A (p.Val297Ile)	NEPRO (V130I +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2634306	NM_015412.4(NEPRO):c.871G>A (p.Val291Met)	NEPRO (V124M +6 more)	Single nucleotide variant (missense variant +1 more)	NEPRO-related disorder	GUncertain significance
Select item 3051365	NM_015412.4(NEPRO):c.852G>C (p.Lys284Asn)	NEPRO (K117N +6 more)	Single nucleotide variant (missense variant +1 more)	NEPRO-related disorder	GUncertain significance
Select item 2246216	NM_015412.4(NEPRO):c.625G>A (p.Ala209Thr)	NEPRO (A98T +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 869497	NM_015412.4(NEPRO):c.435G>C (p.Leu145Phe)	NEPRO (L145F +4 more)	Single nucleotide variant (missense variant +1 more)	Anauxetic dysplasia 3	GPathogenic
Select item 774846	NM_015412.4(NEPRO):c.397G>A (p.Glu133Lys)	NEPRO (E133K +3 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GBenign/Likely benign
Select item 869496	NM_015412.4(NEPRO):c.280C>T (p.Arg94Cys)	NEPRO (R94C)	Single nucleotide variant (missense variant +2 more)	Anauxetic dysplasia 3	GUncertain significance
Select item 3050501	NM_015412.4(NEPRO):c.243C>T (p.Pro81=)	NEPRO	Single nucleotide variant (synonymous variant +2 more)	NEPRO-related disorder	GLikely benign
Select item 1192596	NM_015412.4(NEPRO):c.106+71G>A	NEPRO	Single nucleotide variant (intron variant)	Anauxetic dysplasia 3	GBenign
Select item 3037671	NM_015412.4(NEPRO):c.91C>T (p.Pro31Ser)	NEPRO, NEPRO-AS1 (P31S)	Single nucleotide variant (non-coding transcript variant +2 more)	NEPRO-related disorder	GBenign
Select item 2654036	NM_015412.4(NEPRO):c.84G>A (p.Val28=)	NEPRO, NEPRO-AS1	Single nucleotide variant (non-coding transcript variant +2 more)	not provided +1 more	GLikely benign
Select item 2685929	GRCh37/hg19 3q13.2(chr3:111845309-112880225)x3	ATG3, BTLA +9 more	Copy number gain	not provided	GUncertain significance
Select item 2685090	GRCh37/hg19 3q13.13-13.31(chr3:110398276-113879363)x1	ABHD10, ATG3 +31 more	Copy number loss	not provided	GUncertain significance
Select item 2498335	GRCh37/hg19 3q13.13-13.31(chr3:110966195-115843176)x1	ABHD10, ATG3 +34 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
Select item 1807773	GRCh37/hg19 3q13.12-13.31(chr3:107059705-115005256)x1	ABHD10, ATG3 +49 more	Copy number loss	not provided	GPathogenic
Select item 1703653	GRCh37/hg19 3q13.12-13.31(chr3:106598767-115704696)	ABHD10, ATG3 +51 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
Select item 1527035	GRCh37/hg19 3q13.2-13.31(chr3:112144081-115514432)	ATG3, ATP6V1A +22 more	Copy number loss	not specified	GPathogenic
Select item 980050	GRCh37/hg19 3q13.2-13.31(chr3:112135341-115509260)x3	CD200R1L, CCDC191 +22 more	Copy number gain	not provided	GPathogenic
Select item 686372	GRCh37/hg19 3q13.2(chr3:111929014-112773945)x3	ATG3, BTLA +8 more	Copy number gain	not provided	GUncertain significance
Select item 686136	GRCh37/hg19 3q13.2(chr3:111929014-112773945)x3	ATG3, BTLA +8 more	Copy number gain	not provided	GUncertain significance
Select item 666447	GRCh37/hg19 3q13.2-13.31(chr3:112183943-115492949)x1	BOC, CCDC191 +22 more	Copy number loss	not provided	GPathogenic
Select item 562807	GRCh37/hg19 3q13.2-13.31(chr3:111894832-116930109)x1	ATP6V1A, TIGIT +25 more	Copy number loss	not provided	GPathogenic
Select item 562805	GRCh37/hg19 3q13.13-13.31(chr3:110645295-115103586)x1	ABHD10, ATG3 +34 more	Copy number loss	not provided	GPathogenic
Select item 443681	GRCh37/hg19 3q13.2-13.31(chr3:112590339-116461450)x1	ATP6V1A, BOC +18 more	Copy number loss	See cases	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 393800	GRCh37/hg19 3q13.11-13.32(chr3:105094834-117441953)x1	ABHD10, ALCAM +53 more	Copy number loss	See cases	GPathogenic

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Items: 51