1458[HGNC] - ClinVar

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Items: 76

	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 149172	GRCh38/hg38 7q31.2-33(chr7:117326805-134790689)x1	LOC129999373, LOC129999374 +492 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 154454	GRCh38/hg38 7q31.32-32.1(chr7:122018122-128907727)x1	AASS, ARF5 +163 more	Copy number loss	See cases	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 60295	GRCh38/hg38 7q31.33-32.3(chr7:126859732-132750936)x1	LOC129999356, LOC129999357 +284 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 57379	GRCh38/hg38 7q32.1-33(chr7:128747478-134018250)x3	AHCYL2, ATP6V1F +233 more	Copy number gain	See cases	GPathogenic
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 1167587	NM_001385125.1(OPN1SW):c.1014G>T (p.Ser338=)	CALU, OPN1SW	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
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 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 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 852775	NC_000007.14:g.128772571G>A	CALU, OPN1SW	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
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 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 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 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 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 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 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 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 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 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 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 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 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 858901	NC_000007.14:g.128772646A>G	OPN1SW, CALU	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	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 specified +1 more	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 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 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 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 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 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 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 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 3062992	GRCh37/hg19 7q31.31-33(chr7:120582003-137699953)x1	AASS, AGBL3 +100 more	Copy number loss	not specified	GPathogenic
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 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 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 1410470	NC_000007.13:g.(?_128388409)_(128415844_?)dup	CALU, OPN1SW	Duplication	not provided	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

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Items: 76