ClinVar for Gene (Select 813) - ClinVar

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

Links from Gene

Items: 76

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3262997	NM_001219.5(CALU):c.179C>A (p.Thr60Asn)	CALU (T68N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3245871	NC_000007.13:g.(?_128407490)_(128412733_?)del	CALU, OPN1SW	Deletion	not provided	GUncertain significance
Select item 3245743	NC_000007.13:g.(?_128388409)_(128694824_?)del	ATP6V1F, CALU +6 more	Deletion	Autosomal dominant limb-girdle muscular dystrophy type 1F	GUncertain significance
Select item 3136761	NM_001219.5(CALU):c.554A>G (p.Tyr185Cys)	CALU (Y185C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3136760	NM_001219.5(CALU):c.80G>A (p.Arg27His)	CALU (R27H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062992	GRCh37/hg19 7q31.31-33(chr7:120582003-137699953)x1	AASS, AGBL3 +100 more	Copy number loss	not specified	GPathogenic
Select item 2959357	NM_001385125.1(OPN1SW):c.973G>A (p.Asp325Asn)	CALU, OPN1SW (D325N)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2873828	NM_001385125.1(OPN1SW):c.965A>C (p.Asp322Ala)	OPN1SW, CALU (D322A)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2854845	NM_001385125.1(OPN1SW):c.1014G>A (p.Ser338=)	CALU, OPN1SW	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2793916	NM_001385125.1(OPN1SW):c.919-19A>G	CALU, OPN1SW	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2711318	NM_001385125.1(OPN1SW):c.1011C>T (p.Val337=)	CALU, OPN1SW	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2685269	GRCh37/hg19 7q31.33-32.2(chr7:127076892-129405807)x1	AHCYL2, ARF5 +26 more	Copy number loss	not provided	GPathogenic
Select item 2607592	NM_001219.5(CALU):c.262G>C (p.Val88Leu)	CALU (V88L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2594469	NM_001219.5(CALU):c.734G>A (p.Arg245His)	CALU (R253H +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2467081	NM_001219.5(CALU):c.-11-208C>G	CALU (T4S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2460890	NM_001219.5(CALU):c.932G>A (p.Arg311Gln)	CALU (R311Q +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2430106	NM_001219.5(CALU):c.700C>T (p.Arg234Ter)	CALU (R234* +1 more)	Single nucleotide variant (nonsense +2 more)	Developmental disorder	GLikely pathogenic
Select item 2409987	NM_001219.5(CALU):c.364G>A (p.Gly122Ser)	CALU (G122S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2350167	NM_001385125.1(OPN1SW):c.925G>C (p.Ala309Pro)	CALU, OPN1SW (A309P)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 2342945	NM_001219.5(CALU):c.661G>C (p.Asp221His)	CALU (D221H +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2268315	NM_001219.5(CALU):c.268G>A (p.Val90Met)	CALU (V90M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2241388	NM_001219.5(CALU):c.492C>G (p.Asp164Glu)	CALU (D172E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2240721	NM_001385125.1(OPN1SW):c.1012T>C (p.Ser338Pro)	CALU, OPN1SW (S338P)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2235965	NM_001219.5(CALU):c.848G>A (p.Gly283Asp)	CALU (G283D +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2213502	NM_001219.5(CALU):c.227T>C (p.Ile76Thr)	CALU (I76T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2115402	NM_001385125.1(OPN1SW):c.1028G>A (p.Gly343Asp)	CALU, OPN1SW (G343D)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2100880	NM_001385125.1(OPN1SW):c.973G>C (p.Asp325His)	CALU, OPN1SW (D325H)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1905900	NM_001385125.1(OPN1SW):c.966T>C (p.Asp322=)	CALU, OPN1SW	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
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 1624922	NM_001385125.1(OPN1SW):c.919-18T>C	CALU, OPN1SW	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1583167	NM_001385125.1(OPN1SW):c.923A>G (p.Gln308Arg)	CALU, OPN1SW (Q308R)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 1527395	GRCh37/hg19 7q32.1-34(chr7:127295698-139524358)	CHCHD3, CHRM2 +88 more	Copy number loss	not specified	GPathogenic
Select item 1527394	GRCh37/hg19 7q31.33-33(chr7:124103982-134693590)	BPGM, CALD1 +65 more	Copy number loss	not specified	GPathogenic
Select item 1527391	GRCh37/hg19 7q31.33-33(chr7:123967475-132729981)	ZC3HC1, ZNF800 +55 more	Copy number loss	not specified	GPathogenic
Select item 1527383	GRCh37/hg19 7q22.3-32.1(chr7:106984287-128949489)	PRRT4, PTPRZ1 +92 more	Copy number gain	not specified	GPathogenic
Select item 1509895	NM_001385125.1(OPN1SW):c.1034A>G (p.Asn345Ser)	CALU, OPN1SW (N345S)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1485779	NM_001385125.1(OPN1SW):c.932T>A (p.Ile311Asn)	CALU, OPN1SW (I311N)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1478085	NM_001385125.1(OPN1SW):c.986C>A (p.Ser329Tyr)	CALU, OPN1SW (S329Y)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1410470	NC_000007.13:g.(?_128388409)_(128415844_?)dup	CALU, OPN1SW	Duplication	not provided	GUncertain significance
Select item 1398261	NM_001385125.1(OPN1SW):c.924A>G (p.Gln308=)	CALU, OPN1SW	Single nucleotide variant (synonymous variant +2 more)	not provided	GUncertain significance
Select item 1396418	NM_001385125.1(OPN1SW):c.946T>G (p.Cys316Gly)	CALU, OPN1SW (C316G)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1395268	NM_001385125.1(OPN1SW):c.935T>G (p.Met312Arg)	CALU, OPN1SW (M312R)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1373650	NM_001385125.1(OPN1SW):c.922C>T (p.Gln308Ter)	CALU, OPN1SW (Q308*)	Single nucleotide variant (nonsense +2 more)	not provided	GUncertain significance
Select item 1357380	NM_001385125.1(OPN1SW):c.960G>A (p.Met320Ile)	CALU, OPN1SW (M320I)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1167587	NM_001385125.1(OPN1SW):c.1014G>T (p.Ser338=)	CALU, OPN1SW	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 1160419	NM_001385125.1(OPN1SW):c.972C>T (p.Ser324=)	CALU, OPN1SW	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1130650	NM_001385125.1(OPN1SW):c.996A>C (p.Thr332=)	CALU, OPN1SW	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1130035	NM_001385125.1(OPN1SW):c.919-10T>A	CALU, OPN1SW	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1121794	NM_001385125.1(OPN1SW):c.919-8C>A	CALU, OPN1SW	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1116696	NM_001385125.1(OPN1SW):c.1008T>G (p.Thr336=)	CALU, OPN1SW	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1077815	NM_001385125.1(OPN1SW):c.978A>G (p.Thr326=)	CALU, OPN1SW	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 1036080	NM_001385125.1(OPN1SW):c.1004C>T (p.Ser335Phe)	CALU, OPN1SW (S335F)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 858901	NC_000007.14:g.128772646A>G	OPN1SW, CALU	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 852775	NC_000007.14:g.128772571G>A	CALU, OPN1SW	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 836919	NC_000007.14:g.128772602T>C	CALU, OPN1SW	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +1 more	GUncertain significance
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 688715	GRCh37/hg19 7q32.1(chr7:128412321-128546131)x1	ATP6V1F, CALU +4 more	Copy number loss	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 687212	GRCh37/hg19 7q31.32-32.2(chr7:121480906-129389003)x1	AASS, AHCYL2 +46 more	Copy number loss	not provided	GPathogenic
Select item 686020	GRCh37/hg19 7q32.1(chr7:127999644-128465294)x3	CALU, CCDC136 +7 more	Copy number gain	not provided	GUncertain significance
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 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 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 154485	GRCh38/hg38 7q31.33-33(chr7:124170657-134163594)x1	COPG2, COPG2IT1 +342 more	Copy number loss	See cases	GPathogenic
Select item 154454	GRCh38/hg38 7q31.32-32.1(chr7:122018122-128907727)x1	AASS, ARF5 +163 more	Copy number loss	See cases	GPathogenic
Select item 153888	GRCh38/hg38 7q32.1(chr7:127817826-129237503)x3	IMPDH1, AHCYL2 +106 more	Copy number gain	See cases	GLikely benign
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 149172	GRCh38/hg38 7q31.2-33(chr7:117326805-134790689)x1	LOC129999373, LOC129999374 +492 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 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 60295	GRCh38/hg38 7q31.33-32.3(chr7:126859732-132750936)x1	LOC129999356, LOC129999357 +284 more	Copy number loss	See cases	GPathogenic
Select item 57379	GRCh38/hg38 7q32.1-33(chr7:128747478-134018250)x3	AHCYL2, ATP6V1F +233 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 76