7112[HGNC] - ClinVar

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Items: 70

	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 149975	GRCh38/hg38 7q33-36.1(chr7:135017687-148807400)x1	TRBC2, TRBD1 +455 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	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 147398	GRCh38/hg38 7q33-36.2(chr7:137751200-154815582)x3	ABCB8, ABCF2 +692 more	Copy number gain	See cases	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 155657	GRCh38/hg38 7q34-35(chr7:140061285-144622893)x3	TRBC1, TRBC2 +230 more	Copy number gain	See cases	GUncertain significance
Select item 3220001	NM_013446.4(MKRN1):c.1382C>T (p.Thr461Ile)	MKRN1 (T461I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219681	NM_013446.4(MKRN1):c.1286G>A (p.Ser429Asn)	MKRN1 (S429N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2464286	NM_013446.4(MKRN1):c.1234C>T (p.Arg412Trp)	MKRN1 (R412W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219041	NM_013446.4(MKRN1):c.1186C>T (p.Arg396Cys)	MKRN1 (R396C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2338700	NM_013446.4(MKRN1):c.1130G>A (p.Arg377His)	MKRN1 (R377H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3295005	NM_013446.4(MKRN1):c.1076T>A (p.Leu359Gln)	MKRN1 (L359Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3152095	NM_013446.4(MKRN1):c.866A>C (p.Tyr289Ser)	MKRN1 (Y225S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2293959	NM_013446.4(MKRN1):c.758C>T (p.Ser253Leu)	MKRN1 (S253L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295007	NM_013446.4(MKRN1):c.578G>C (p.Gly193Ala)	MKRN1 (G129A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307718	NM_013446.4(MKRN1):c.575A>G (p.Gln192Arg)	MKRN1 (Q192R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317360	NM_013446.4(MKRN1):c.530C>G (p.Pro177Arg)	MKRN1 (P177R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150289	NM_013446.4(MKRN1):c.442G>A (p.Glu148Lys)	MKRN1 (E84K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365841	NM_013446.4(MKRN1):c.440G>A (p.Gly147Asp)	MKRN1 (G147D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461789	NM_013446.4(MKRN1):c.437C>T (p.Thr146Ile)	MKRN1 (T146I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295006	NM_013446.4(MKRN1):c.385G>A (p.Ala129Thr)	MKRN1 (A129T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263205	NM_013446.4(MKRN1):c.380C>G (p.Ser127Cys)	MKRN1 (S63C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148973	NM_013446.4(MKRN1):c.280C>G (p.Gln94Glu)	MKRN1 (Q94E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2251492	NM_013446.4(MKRN1):c.265G>C (p.Val89Leu)	MKRN1 (V89L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2251065	NM_013446.4(MKRN1):c.217G>C (p.Asp73His)	MKRN1 (D9H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2378791	NM_013446.4(MKRN1):c.94C>A (p.Pro32Thr)	MKRN1 (P32T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 797184	NM_013446.4(MKRN1):c.90G>T (p.Pro30=)	MKRN1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3152394	NM_013446.4(MKRN1):c.89C>G (p.Pro30Arg)	MKRN1 (P30R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2605553	NM_013446.4(MKRN1):c.80C>A (p.Ser27Tyr)	MKRN1 (S27Y)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2350798	NM_013446.4(MKRN1):c.59C>A (p.Ala20Glu)	MKRN1 (A20E)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3295004	NM_013446.4(MKRN1):c.31G>T (p.Ala11Ser)	MKRN1 (A11S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3062984	GRCh37/hg19 7q33-36.3(chr7:137456457-159119707)x3	ABCB8, ABCF2 +165 more	Copy number gain	not specified	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 2583057	GRCh37/hg19 7q34-36.1(chr7:140154317-152551638)x1	NDUFB2, NOBOX +125 more	Copy number loss	not provided	GPathogenic
Select item 2425346	NC_000007.13:g.(?_130781014)_(150301047_?)del	CTAGE6, CTAGE8 +141 more	Deletion	not provided	GPathogenic
Select item 2425073	NC_000007.13:g.(?_138391369)_(141759786_?)del	SSBP1, TAS2R3 +34 more	Deletion	not provided	GPathogenic
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 1527405	GRCh37/hg19 7q34(chr7:140142390-140443247)	ADCK2, BRAF +3 more	Copy number gain	not specified	GUncertain significance
Select item 1450681	NC_000007.13:g.(?_137761265)_(141759786_?)dup	ADCK2, AGK +37 more	Duplication	not provided	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	EPHA1, EPHB6 +105 more	Copy number loss	Hypertelorism +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 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 617479	Single allele	DGKI, SVOPL +74 more	Complex	Renal transitional cell carcinoma	GLikely pathogenic
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 563299	GRCh37/hg19 7q34(chr7:140169259-140284519)x1	DENND2A, MKRN1	Copy number loss	not provided	GUncertain significance
Select item 443705	GRCh37/hg19 7q33-34(chr7:137434852-140349546)x3	AKR1D1, ATP6V0A4 +22 more	Copy number gain	See cases	GUncertain significance
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 441751	GRCh37/hg19 7q33-36.3(chr7:136758593-159119707)x3	DGKI, DNAJB6 +166 more	Copy number gain	See cases	GPathogenic
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic

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Items: 70