ClinVar for Gene (Select 7791) - ClinVar

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Links from Gene

Items: 85

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2684506	GRCh37/hg19 7q34-35(chr7:142833114-143218955)x3	CASP2, CLCN1 +10 more	Copy number gain	not provided	GUncertain significance
Select item 2658119	NM_003461.5(ZYX):c.714C>T (p.Val238=)	ZYX	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2658118	NM_003461.5(ZYX):c.369G>A (p.Glu123=)	ZYX	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2658117	NM_003461.5(ZYX):c.276C>T (p.Ala92=)	ZYX	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2658116	NM_003461.5(ZYX):c.192C>T (p.Pro64=)	FAM131B, ZYX	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2615162	NM_003461.5(ZYX):c.664T>C (p.Phe222Leu)	ZYX (F222L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609570	NM_003461.5(ZYX):c.1000C>G (p.Pro334Ala)	ZYX (P303A +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2593165	NM_003461.5(ZYX):c.20C>T (p.Ser7Phe)	FAM131B, ZYX (S7F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2583057	GRCh37/hg19 7q34-36.1(chr7:140154317-152551638)x1	C7orf33, CASP2 +125 more	Copy number loss	not provided	GPathogenic
Select item 2579171	GRCh38/hg38 7q34-36.3(chr7:138620939-159233475)x3	DYNC2I1, EN2 +847 more	Copy number gain	Neurodevelopmental disorder	GLikely pathogenic
Select item 2579170	GRCh38/hg38 7q33-36.3(chr7:137463392-159345973)x3	AGAP3, AGK +888 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2555530	NM_003461.5(ZYX):c.1528C>A (p.Pro510Thr)	ZYX (P510T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544249	NM_003461.5(ZYX):c.740T>C (p.Leu247Ser)	ZYX (L216S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2530815	NM_003461.5(ZYX):c.452T>C (p.Leu151Pro)	ZYX (L151P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2524476	NM_003461.5(ZYX):c.1222G>T (p.Ala408Ser)	ZYX (A408S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479938	NM_003461.5(ZYX):c.778C>T (p.Pro260Ser)	ZYX (P260S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466649	NM_003461.5(ZYX):c.710A>T (p.His237Leu)	ZYX (H237L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466521	NM_003461.5(ZYX):c.1360C>T (p.Arg454Cys)	ZYX (R454C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425346	NC_000007.13:g.(?_130781014)_(150301047_?)del	ACTR3C, ADCK2 +141 more	Deletion	not provided	GPathogenic
Select item 2404886	NM_003461.5(ZYX):c.779C>T (p.Pro260Leu)	ZYX (P229L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387271	NM_003461.5(ZYX):c.1048C>T (p.Pro350Ser)	ZYX (P319S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385755	NM_003461.5(ZYX):c.1009C>G (p.Gln337Glu)	ZYX (Q306E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377159	NM_003461.5(ZYX):c.1292C>T (p.Pro431Leu)	ZYX (P400L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361408	NM_003461.5(ZYX):c.1201C>G (p.Leu401Val)	ZYX (L401V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356785	NM_003461.5(ZYX):c.1028G>A (p.Arg343His)	ZYX (R343H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346466	NM_003461.5(ZYX):c.1424G>A (p.Arg475His)	ZYX (R475H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328324	NM_003461.5(ZYX):c.1637T>G (p.Ile546Ser)	ZYX (I546S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302065	NM_003461.5(ZYX):c.1237C>G (p.His413Asp)	ZYX (H382D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296951	NM_003461.5(ZYX):c.824C>T (p.Pro275Leu)	ZYX (P244L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268504	NM_003461.5(ZYX):c.298A>C (p.Ile100Leu)	ZYX (I100L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260396	NM_003461.5(ZYX):c.152G>A (p.Gly51Glu)	FAM131B, ZYX (G51E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2237942	NM_003461.5(ZYX):c.337A>C (p.Ile113Leu)	ZYX (I113L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227099	NM_003461.5(ZYX):c.530T>G (p.Val177Gly)	ZYX (V146G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224559	NM_003461.5(ZYX):c.898G>A (p.Glu300Lys)	ZYX (E300K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807754	GRCh37/hg19 7q32.3-36.1(chr7:131779213-149042734)x1	RAB19, RNY1 +123 more	Copy number loss	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 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1527406	GRCh37/hg19 7q34-35(chr7:142691458-143193361)	CASP2, CLCN1 +12 more	Copy number gain	not specified	GUncertain significance
Select item 1341257	GRCh37/hg19 7q33-36.3(chr7:133851002-159119707)x3	ABCB8, ABCF2 +186 more	Copy number gain	not provided	GPathogenic
Select item 1330183	GRCh37/hg19 7q33-35(chr7:133848099-145814115)x1	ADCK2, AGBL3 +105 more	Copy number loss	Small face +7 more	GPathogenic
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 815017	GRCh37/hg19 7q31.1-36.3(chr7:109251060-159119707)x3	CHRM2, KRBA1 +295 more	Copy number gain	not provided	GPathogenic
Select item 784501	NM_003461.5(ZYX):c.188T>G (p.Ile63Ser)	FAM131B, ZYX (I63S)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 780725	NM_003461.5(ZYX):c.1377G>A (p.Thr459=)	ZYX	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 780724	NM_003461.5(ZYX):c.1200T>C (p.Ala400=)	ZYX	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 727930	NM_003461.5(ZYX):c.1440C>T (p.Thr480=)	ZYX	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 724147	NM_003461.5(ZYX):c.578G>A (p.Gly193Asp)	ZYX (G193D +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 687979	GRCh37/hg19 7q34-35(chr7:141751875-147105208)x3	ARHGEF35, ARHGEF5 +44 more	Copy number gain	not provided	GUncertain significance
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 563422	GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3	AASS, ABCB8 +436 more	Copy number gain	not provided	GPathogenic
Select item 563421	GRCh37/hg19 7q34-36.3(chr7:140133025-158982771)x1	ABCB8, ABCF2 +143 more	Copy number loss	not provided	GPathogenic
Select item 442966	GRCh37/hg19 7q33-36.3(chr7:137917376-159119707)x1	ABCB8, ABCF2 +162 more	Copy number loss	See cases	GPathogenic
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 442595	GRCh37/hg19 7q34-36.3(chr7:140636858-159119707)x1	ABCB8, ABCF2 +138 more	Copy number loss	See cases	GPathogenic
Select item 441751	GRCh37/hg19 7q33-36.3(chr7:136758593-159119707)x3	DGKI, DNAJB6 +166 more	Copy number gain	See cases	GPathogenic
Select item 155687	GRCh38/hg38 7q32.3-36.3(chr7:131171478-159327017)x3	LOC129999666, LOC129999667 +1052 more	Copy number gain	See cases	GPathogenic
Select item 155657	GRCh38/hg38 7q34-35(chr7:140061285-144622893)x3	TRBC1, TRBC2 +230 more	Copy number gain	See cases	GUncertain significance
Select item 155640	GRCh38/hg38 7q32.3-36.3(chr7:132438072-159327017)x3	LOC129999503, LOC129999504 +1025 more	Copy number gain	See cases	GPathogenic
Select item 154735	GRCh38/hg38 7q32.3-36.3(chr7:131228764-159335866)x3	TMEM140, TMEM176A +1046 more	Copy number gain	See cases	GPathogenic
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	LOC129999548, LOC129999549 +1547 more	Copy number gain	See cases	GPathogenic
Select item 150858	GRCh38/hg38 7q32.3-36.3(chr7:132444095-159335866)x3	LINC00996, LINC01003 +1025 more	Copy number gain	See cases	GPathogenic
Select item 149975	GRCh38/hg38 7q33-36.1(chr7:135017687-148807400)x1	TRBC2, TRBD1 +455 more	Copy number loss	See cases	GPathogenic
Select item 149905	GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3	LOC129999653, LOC129999654 +1380 more	Copy number gain	See cases	GPathogenic
Select item 149061	GRCh38/hg38 7q33-36.3(chr7:134666829-158591882)x1	WDR86, WDR86-AS1 +944 more	Copy number loss	See cases	GPathogenic
Select item 148181	GRCh38/hg38 7q34-36.3(chr7:141960861-159335866)x1	ABCB8, ABCF2 +707 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC111674474, LOC111674475 +2212 more	Copy number gain	See cases	GPathogenic
Select item 147398	GRCh38/hg38 7q33-36.2(chr7:137751200-154815582)x3	ABCB8, ABCF2 +692 more	Copy number gain	See cases	GPathogenic
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	LOC121740684, LOC121740685 +4735 more	Copy number loss	See cases	GPathogenic
Select item 144163	GRCh38/hg38 7q34-35(chr7:141126407-145652221)x3	AGK, AGK-DT +192 more	Copy number gain	See cases	GPathogenic
Select item 60300	GRCh38/hg38 7q34-36.3(chr7:140754198-159307523)x1	LOC129999649, LOC129999650 +737 more	Copy number loss	See cases	GPathogenic
Select item 60297	GRCh38/hg38 7q33-35(chr7:135414108-144140219)x1	ADCK2, AGK +373 more	Copy number loss	See cases	GPathogenic
Select item 59716	GRCh38/hg38 7q33-36.3(chr7:136309982-159307523)x3	LOC129999526, LOC129999527 +908 more	Copy number gain	See cases	GPathogenic
Select item 57401	GRCh38/hg38 7q32.3-36.3(chr7:132850196-159325876)x3	ABCB8, ABCF2 +1019 more	Copy number gain	See cases	GPathogenic
Select item 57215	GRCh38/hg38 7q32.1-36.3(chr7:129310166-159282390)x3	C7orf33, CALD1 +1176 more	Copy number gain	See cases	GPathogenic
Select item 57046	GRCh38/hg38 7q34-35(chr7:142578948-144254897)x1	ARHGEF35, ARHGEF35-AS1 +110 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 85