17118[HGNC] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 117

<< 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 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC123956257, LOC123956258 +2213 more	Copy number gain	See cases	GPathogenic
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	AASS, ABCB8 +1547 more	Copy number gain	See cases	GPathogenic
Select item 149905	GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3	AASS, ABCB8 +1380 more	Copy number gain	See cases	GPathogenic
Select item 57215	GRCh38/hg38 7q32.1-36.3(chr7:129310166-159282390)x3	ABCB8, ABCF2 +1176 more	Copy number gain	See cases	GPathogenic
Select item 155687	GRCh38/hg38 7q32.3-36.3(chr7:131171478-159327017)x3	PRKAG2, PRKAG2-AS1 +1052 more	Copy number gain	See cases	GPathogenic
Select item 154735	GRCh38/hg38 7q32.3-36.3(chr7:131228764-159335866)x3	LOC129389895, LOC129389896 +1046 more	Copy number gain	See cases	GPathogenic
Select item 155640	GRCh38/hg38 7q32.3-36.3(chr7:132438072-159327017)x3	TRBV27, TRBV28 +1025 more	Copy number gain	See cases	GPathogenic
Select item 150858	GRCh38/hg38 7q32.3-36.3(chr7:132444095-159335866)x3	OR2A2, OR2A25 +1025 more	Copy number gain	See cases	GPathogenic
Select item 57401	GRCh38/hg38 7q32.3-36.3(chr7:132850196-159325876)x3	TRC-GCA9-3, TRC-GCA9-4 +1019 more	Copy number gain	See cases	GPathogenic
Select item 149061	GRCh38/hg38 7q33-36.3(chr7:134666829-158591882)x1	LOC129999635, LOC129999636 +944 more	Copy number loss	See cases	GPathogenic
Select item 59716	GRCh38/hg38 7q33-36.3(chr7:136309982-159307523)x3	ABCB8, ABCF2 +908 more	Copy number gain	See cases	GPathogenic
Select item 2579170	GRCh38/hg38 7q33-36.3(chr7:137463392-159345973)x3	EPHA1-AS1, EPHB6 +888 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2579171	GRCh38/hg38 7q34-36.3(chr7:138620939-159233475)x3	LOC129999716, LOC129999717 +847 more	Copy number gain	Neurodevelopmental disorder	GLikely pathogenic
Select item 60300	GRCh38/hg38 7q34-36.3(chr7:140754198-159307523)x1	ABCB8, ABCF2 +737 more	Copy number loss	See cases	GPathogenic
Select item 148181	GRCh38/hg38 7q34-36.3(chr7:141960861-159335866)x1	LOC129999721, LOC129999722 +707 more	Copy number loss	See cases	GPathogenic
Select item 60302	GRCh38/hg38 7q35-36.3(chr7:143884559-159282390)x1	LOC129999681, LOC129999682 +573 more	Copy number loss	See cases	GPathogenic
Select item 148943	GRCh38/hg38 7q35-36.3(chr7:145250254-159335866)x1	ABCB8, ABCF2 +540 more	Copy number loss	See cases	GPathogenic
Select item 148263	GRCh38/hg38 7q35-36.3(chr7:145436544-159331441)x1	LOC129999684, LOC129999685 +538 more	Copy number loss	See cases	GLikely pathogenic
Select item 60312	GRCh38/hg38 7q35-36.3(chr7:145699944-159296617)x1	LOC129999655, LOC129999656 +533 more	Copy number loss	See cases	GPathogenic
Select item 148715	GRCh38/hg38 7q35-36.3(chr7:146047157-157522158)x1	ABCB8, ABCF2 +473 more	Copy number loss	See cases	GPathogenic
Select item 155436	GRCh38/hg38 7q35-36.3(chr7:147144002-159327017)x1	UBE3C, VIPR2 +526 more	Copy number loss	See cases	GPathogenic
Select item 57408	GRCh38/hg38 7q35-36.3(chr7:147250465-159325876)x1	ABCB8, ABCF2 +526 more	Copy number loss	See cases	GPathogenic
Select item 154525	GRCh38/hg38 7q36.1-36.3(chr7:150260297-159325876)x1	ABCB8, ABCF2 +407 more	Copy number loss	See cases	GPathogenic
Select item 146852	GRCh38/hg38 7q36.1-36.3(chr7:150486071-159335865)x1	ABCB8, ABCF2 +375 more	Copy number loss	See cases	GPathogenic
Select item 148391	GRCh38/hg38 7q36.1-36.3(chr7:150802801-159335866)x1	ABCB8, ABCF2 +351 more	Copy number loss	See cases	GPathogenic
Select item 147505	GRCh38/hg38 7q36.1-36.3(chr7:151104277-159325876)x3	ABCF2, ABCF2-H2BK1 +315 more	Copy number gain	See cases	GPathogenic
Select item 146896	GRCh38/hg38 7q36.1-36.3(chr7:151378879-158923762)x1	LOC129389944, LOC129389945 +271 more	Copy number loss	See cases	GPathogenic
Select item 60314	GRCh38/hg38 7q36.1-36.3(chr7:152332476-159296617)x1	ACTR3B, BLACE +226 more	Copy number loss	See cases	GPathogenic
Select item 150933	GRCh38/hg38 7q36.1-36.3(chr7:152428852-159335865)x3	ACTR3B, BLACE +225 more	Copy number gain	See cases	GPathogenic
Select item 545343	NC_000007.14:g.(?_152454659)_(158705768_?)del	LOC126860233, LOC129999706 +190 more	Deletion	Autism	GLikely pathogenic
Select item 147806	GRCh38/hg38 7q36.2-36.3(chr7:152807205-159325876)x1	EN2-DT, ESYT2 +207 more	Copy number loss	See cases	GPathogenic
Select item 146922	GRCh38/hg38 7q36.2-36.3(chr7:152860576-159325876)x1	BLACE, CNPY1 +205 more	Copy number loss	See cases	GPathogenic
Select item 60315	GRCh38/hg38 7q36.2-36.3(chr7:152918472-159307523)x1	BLACE, CNPY1 +204 more	Copy number loss	See cases	GPathogenic
Select item 60316	GRCh38/hg38 7q36.2-36.3(chr7:152920128-159332714)x1	BLACE, CNPY1 +205 more	Copy number loss	See cases	GPathogenic
Select item 146559	GRCh38/hg38 7q36.2-36.3(chr7:153908499-159325876)x1	BLACE, CNPY1 +195 more	Copy number loss	See cases	GPathogenic
Select item 2579275	GRCh38/hg38 7q36.2-36.3(chr7:154446117-159206757)x1	BLACE, CNPY1 +193 more	Copy number loss	Holoprosencephaly 3	GPathogenic
Select item 147399	GRCh38/hg38 7q36.2-36.3(chr7:154939710-159325876)x1	BLACE, CNPY1 +186 more	Copy number loss	See cases	GPathogenic
Select item 57200	GRCh38/hg38 7q36.2-36.3(chr7:155007022-159135526)x1	BLACE, CNPY1 +173 more	Copy number loss	See cases	GPathogenic
Select item 154568	GRCh38/hg38 7q36.3(chr7:155262313-159117047)x1	BLACE, CNPY1 +161 more	Copy number loss	See cases	GPathogenic
Select item 149109	GRCh38/hg38 7q36.3(chr7:155379296-159335866)x3	CNPY1, DNAJB6 +156 more	Copy number gain	See cases	GLikely pathogenic
Select item 146358	GRCh38/hg38 7q36.3(chr7:155501171-159325876)x1	CNPY1, DNAJB6 +150 more	Copy number loss	See cases	GPathogenic
Select item 152725	GRCh38/hg38 7q36.3(chr7:155574967-159335866)x1	DNAJB6, DYNC2I1 +148 more	Copy number loss	See cases	GPathogenic
Select item 4904	NC_000007.14:g.156350691_156939511dup	LINC00244, LMBR1 +22 more	Duplication	Triphalangeal thumb-polysyndactyly syndrome	GPathogenic
Select item 2609326	NM_030936.4(RNF32):c.11A>T (p.Asn4Ile)	RNF32 (N4I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2335250	NM_030936.4(RNF32):c.95G>A (p.Arg32Gln)	RNF32 (R32Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2599253	NM_030936.4(RNF32):c.128A>T (p.Gln43Leu)	RNF32 (Q43L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3314893	NM_030936.4(RNF32):c.206A>T (p.Gln69Leu)	RNF32 (Q69L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3155401	NM_030936.4(RNF32):c.257C>T (p.Pro86Leu)	RNF32 (P86L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3314895	NM_030936.4(RNF32):c.260C>T (p.Pro87Leu)	RNF32 (P87L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3155402	NM_030936.4(RNF32):c.346C>T (p.Arg116Cys)	RNF32, RNF32-AS1 (R116C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2241415	NM_030936.4(RNF32):c.387C>G (p.Ile129Met)	RNF32, RNF32-AS1 (I129M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2554449	NM_030936.4(RNF32):c.413C>T (p.Pro138Leu)	RNF32, RNF32-AS1 (P138L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2348197	NM_030936.4(RNF32):c.481A>G (p.Asn161Asp)	LOC126860251, RNF32 +1 more (N161D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3314892	NM_030936.4(RNF32):c.493T>C (p.Cys165Arg)	LOC126860251, RNF32 +1 more (C165R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2291352	NM_030936.4(RNF32):c.497C>T (p.Pro166Leu)	LOC126860251, RNF32 +1 more (P166L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2207128	NM_030936.4(RNF32):c.608G>C (p.Arg203Thr)	RNF32, RNF32-AS1 (R203T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2492704	NM_030936.4(RNF32):c.616T>C (p.Tyr206His)	RNF32, RNF32-AS1 (Y206H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2346094	NM_030936.4(RNF32):c.687C>G (p.Phe229Leu)	LMBR1, RNF32 (F229L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3155403	NM_030936.4(RNF32):c.689C>T (p.Thr230Ile)	LMBR1, RNF32 (T230I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3314894	NM_030936.4(RNF32):c.695T>C (p.Ile232Thr)	LMBR1, RNF32 (I232T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2411185	NM_030936.4(RNF32):c.722A>C (p.Asn241Thr)	LMBR1, RNF32 (N241T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2465824	NM_030936.4(RNF32):c.754G>A (p.Asp252Asn)	LMBR1, RNF32 (D252N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3155404	NM_030936.4(RNF32):c.803A>T (p.Lys268Ile)	LMBR1, RNF32 (K268I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2373043	NM_030936.4(RNF32):c.805T>C (p.Cys269Arg)	LMBR1, RNF32 (C269R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3314891	NM_030936.4(RNF32):c.860G>A (p.Arg287His)	LMBR1, RNF32 (R287H)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2385861	NM_030936.4(RNF32):c.922G>A (p.Val308Met)	LMBR1, RNF32 (V308M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2596472	NM_030936.4(RNF32):c.938G>A (p.Arg313His)	LMBR1, RNF32 (R313H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3155406	NM_030936.4(RNF32):c.953C>T (p.Ala318Val)	LMBR1, RNF32 (A318V)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3155407	NM_030936.4(RNF32):c.986C>T (p.Ala329Val)	LMBR1, RNF32 (A329V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2211298	NM_030936.4(RNF32):c.1015G>A (p.Val339Met)	LMBR1, RNF32 (V339M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2284385	NM_030936.4(RNF32):c.1071G>T (p.Lys357Asn)	LMBR1, RNF32 (K357N)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3155400	NM_030936.4(RNF32):c.1078C>T (p.Leu360Phe)	LMBR1, RNF32 (L360F)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3148948	GRCh37/hg19 7q34-36.3(chr7:141690279-159119707)x3	ABCB8, ABCF2 +125 more	Copy number gain	See cases	GPathogenic
Select item 3062984	GRCh37/hg19 7q33-36.3(chr7:137456457-159119707)x3	ABCB8, ABCF2 +165 more	Copy number gain	not specified	GPathogenic
Select item 3062957	GRCh37/hg19 7q36.3(chr7:155607058-159119707)x1	DNAJB6, DYNC2I1 +9 more	Copy number loss	not specified	GPathogenic
Select item 2685274	GRCh37/hg19 7q35-36.3(chr7:144940098-159119707)x1	INSIG1, PDIA4 +80 more	Copy number loss	not provided	GPathogenic
Select item 2685272	GRCh37/hg19 7q34-36.3(chr7:142099013-159119707)x1	CLCN1, RHEB +123 more	Copy number loss	not provided	GPathogenic
Select item 2685271	GRCh37/hg19 7q33-36.3(chr7:135639005-159119707)x1	ARHGEF35, KEL +169 more	Copy number loss	not provided	GPathogenic
Select item 2422565	NC_000007.13:g.(?_152617597)_(158500659_?)del	INSIG1, LMBR1 +13 more	Deletion	not provided	GPathogenic
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1705937	GRCh37/hg19 7q36.3(chr7:155389460-157960969)x1	RBM33, DNAJB6 +7 more	Copy number loss	Microcephaly	GPathogenic
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1436808	NC_000007.13:g.(?_155595594)_(157208792_?)dup	DNAJB6, LMBR1 +5 more	Duplication	Holoprosencephaly 3	GUncertain significance
Select item 1341986	GRCh37/hg19 7q36.1-36.3(chr7:149062717-159124131)x1	ACTR3C, AGAP3 +65 more	Copy number loss	not provided	GPathogenic
Select item 1341970	GRCh37/hg19 7q35-36.3(chr7:146927174-159128556)x3	CUL1, DNAJB6 +80 more	Copy number gain	not provided	GPathogenic
Select item 1341257	GRCh37/hg19 7q33-36.3(chr7:133851002-159119707)x3	ABCB8, ABCF2 +186 more	Copy number gain	not provided	GPathogenic
Select item 1340734	GRCh37/hg19 7q36.1-36.3(chr7:148153261-157543640)x3	ACTR3C, ABCB8 +75 more	Copy number gain	not provided	GPathogenic
Select item 1340055	GRCh37/hg19 7q36.1-36.3(chr7:148695373-159119707)x1	ABCB8, ABCF2 +72 more	Copy number loss	not provided	GPathogenic
Select item 983166	GRCh37/hg19 7q36.2-36.3(chr7:152800000-159138663)x1	UBE3C, ESYT2 +16 more	Copy number loss	See cases	GPathogenic
Select item 980290	GRCh37/hg19 7q36.3(chr7:155319280-159119707)x1	DNAJB6, LMBR1 +12 more	Copy number loss	not provided	GPathogenic
Select item 973042	GRCh37/hg19 7q35-36.3(chr7:143107740-156886246)x3	ABCB8, ABCF2 +96 more	Copy number gain	not provided	Gnot provided
Select item 816507	GRCh37/hg19 7q32.3-36.3(chr7:131414604-159126310)x1	ABCB8, ABCF2 +190 more	Copy number loss	See cases	GPathogenic
Select item 815045	GRCh37/hg19 7q35-36.3(chr7:145962558-159119707)x1	NOM1, NOS3 +80 more	Copy number loss	not provided	GPathogenic
Select item 815017	GRCh37/hg19 7q31.1-36.3(chr7:109251060-159119707)x3	CHRM2, KRBA1 +295 more	Copy number gain	not provided	GPathogenic
Select item 688878	GRCh37/hg19 7q32.3-36.3(chr7:130592554-159119707)x3	OR2A25, OR2A42 +192 more	Copy number gain	not provided	GPathogenic
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 625550	GRCh37/hg19 7q32.1-36.3(chr7:128312450-159119220)	ABCB8, ABCF2 +229 more	Copy number gain	not provided	GPathogenic
Select item 585197	GRCh37/hg19 7q36.3(chr7:156460343-156682575)x3	LMBR1, RNF32	Copy number gain	Syndactyly type 4	GPathogenic
Select item 563422	GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3	AASS, ABCB8 +436 more	Copy number gain	not provided	GPathogenic

<< First< Prev

Page of 2