ClinVar for Gene (Select 136541) - ClinVar

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Links from Gene

Items: 75

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3310747	NM_001001317.5(PRSS58):c.330G>C (p.Glu110Asp)	PRSS58 (E110D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219962	NM_001001317.5(PRSS58):c.718A>C (p.Asn240His)	PRSS58 (N240H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219961	NM_001001317.5(PRSS58):c.646G>A (p.Val216Ile)	PRSS58 (V216I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219960	NM_001001317.5(PRSS58):c.590C>G (p.Ala197Gly)	PRSS58 (A197G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219958	NM_001001317.5(PRSS58):c.188G>A (p.Arg63Gln)	PRSS58 (R63Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 2685271	GRCh37/hg19 7q33-36.3(chr7:135639005-159119707)x1	ARHGEF35, KEL +169 more	Copy number loss	not provided	GPathogenic
Select item 2592181	NM_001001317.5(PRSS58):c.56A>C (p.Asn19Thr)	PRSS58 (N19T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2583057	GRCh37/hg19 7q34-36.1(chr7:140154317-152551638)x1	NDUFB2, NOBOX +125 more	Copy number loss	not provided	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 2579170	GRCh38/hg38 7q33-36.3(chr7:137463392-159345973)x3	EPHA1-AS1, EPHB6 +888 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2544884	NM_001001317.5(PRSS58):c.326C>G (p.Thr109Arg)	PRSS58 (T109R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2523115	NM_001001317.5(PRSS58):c.271C>T (p.Pro91Ser)	PRSS58 (P91S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509048	NM_001001317.5(PRSS58):c.16C>G (p.Leu6Val)	PRSS58 (L6V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481050	NM_001001317.5(PRSS58):c.410C>T (p.Thr137Ile)	PRSS58 (T137I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470824	NM_001001317.5(PRSS58):c.565C>A (p.Gln189Lys)	PRSS58 (Q189K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425346	NC_000007.13:g.(?_130781014)_(150301047_?)del	CTAGE6, CTAGE8 +141 more	Deletion	not provided	GPathogenic
Select item 2400004	NM_001001317.5(PRSS58):c.302A>T (p.Asp101Val)	PRSS58 (D101V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358840	NM_001001317.5(PRSS58):c.379A>C (p.Ile127Leu)	PRSS58 (I127L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358677	NM_001001317.5(PRSS58):c.448G>A (p.Asp150Asn)	PRSS58 (D150N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355074	NM_001001317.5(PRSS58):c.499G>C (p.Asp167His)	PRSS58 (D167H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343763	NM_001001317.5(PRSS58):c.501T>G (p.Asp167Glu)	PRSS58 (D167E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325225	NM_001001317.5(PRSS58):c.640G>A (p.Gly214Arg)	PRSS58 (G214R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314441	NM_001001317.5(PRSS58):c.86C>T (p.Pro29Leu)	PRSS58 (P29L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283003	NM_001001317.5(PRSS58):c.79A>C (p.Thr27Pro)	PRSS58 (T27P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246149	NM_001001317.5(PRSS58):c.143C>T (p.Pro48Leu)	PRSS58 (P48L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238153	NM_001001317.5(PRSS58):c.496C>T (p.Arg166Cys)	PRSS58 (R166C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218105	NM_001001317.5(PRSS58):c.190G>A (p.Val64Met)	PRSS58 (V64M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210235	NM_001001317.5(PRSS58):c.482C>A (p.Ser161Tyr)	PRSS58 (S161Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208707	NM_001001317.5(PRSS58):c.694C>A (p.Pro232Thr)	PRSS58 (P232T)	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 1705936	GRCh37/hg19 7q34(chr7:141937588-142716850)x3	EPHB6, KEL +7 more	Copy number gain	Newborn respiratory distress syndrome	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	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 1330183	GRCh37/hg19 7q33-35(chr7:133848099-145814115)x1	EPHA1, EPHB6 +105 more	Copy number loss	Hypertelorism +7 more	GPathogenic
Select item 973567	NC_000007.13:g.141443350_142460881dup	CLEC5A, MGAM +11 more	Duplication	Hereditary pancreatitis	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 689030	GRCh37/hg19 7q34(chr7:141932561-142486548)x3	MTRNR2L6, PRSS1 +2 more	Copy number gain	not provided	GUncertain significance
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 688163	GRCh37/hg19 7q34(chr7:141932561-142487154)x3	MTRNR2L6, PRSS1 +2 more	Copy number gain	not provided	GUncertain significance
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 563295	GRCh37/hg19 7q34(chr7:141854658-141963253)x1	PRSS58	Copy number loss	not provided	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 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 155692	GRCh37/hg19 7q34(chr7:141937588-142486548)x3	LOC113687199, LOC121201615 +58 more	Copy number gain	See cases	GUncertain significance
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 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	TRBV27, TRBV28 +1025 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 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	AASS, ABCB8 +1547 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 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	AASS, ABCB8 +1380 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 148648	GRCh38/hg38 7q34(chr7:142237788-142779344)x3	LOC113687199, LOC121201615 +54 more	Copy number gain	See cases	GLikely benign
Select item 148181	GRCh38/hg38 7q34-36.3(chr7:141960861-159335866)x1	LOC129999721, LOC129999722 +707 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 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	CUL1, CUX1 +4737 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	ABCB8, ABCF2 +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	ABCB8, ABCF2 +908 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 57215	GRCh38/hg38 7q32.1-36.3(chr7:129310166-159282390)x3	ABCB8, ABCF2 +1176 more	Copy number gain	See cases	GPathogenic

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Items: 75