ClinVar for Gene (Select 1608) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3271726	NM_001346.3(DGKG):c.1966G>T (p.Ala656Ser)	DGKG (A631S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271725	NM_001346.3(DGKG):c.1121A>C (p.His374Pro)	DGKG (H335P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271724	NM_001346.3(DGKG):c.182C>T (p.Ala61Val)	DGKG (A61V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271723	NM_001346.3(DGKG):c.1883C>A (p.Thr628Asn)	DGKG (T628N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148910	GRCh37/hg19 3q26.33-29(chr3:179313373-197851444)x3	ABCC5, ABCF3 +136 more	Copy number gain	See cases	GPathogenic
Select item 3081917	NM_001346.3(DGKG):c.886C>T (p.Arg296Cys)	DGKG (R296C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081916	NM_001346.3(DGKG):c.83T>C (p.Ile28Thr)	DGKG (I28T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081915	NM_001346.3(DGKG):c.691G>A (p.Gly231Arg)	DGKG (G231R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081914	NM_001346.3(DGKG):c.212T>C (p.Leu71Pro)	DGKG (L71P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081913	NM_001346.3(DGKG):c.2122G>A (p.Val708Met)	DGKG (V669M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081912	NM_001346.3(DGKG):c.194T>G (p.Val65Gly)	DGKG (V65G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081911	NM_001346.3(DGKG):c.1765G>A (p.Ala589Thr)	DGKG (A550T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081910	NM_001346.3(DGKG):c.1505G>A (p.Cys502Tyr)	DGKG (C463Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081908	NM_001346.3(DGKG):c.1438C>T (p.Arg480Cys)	DGKG (R455C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081907	NM_001346.3(DGKG):c.1288C>T (p.Pro430Ser)	DGKG (P391S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081906	NM_001346.3(DGKG):c.113G>T (p.Gly38Val)	DGKG (G38V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081904	NM_001346.3(DGKG):c.1077G>C (p.Gln359His)	DGKG (Q359H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2671619	Single allele	ABCC5, ABCF3 +145 more	Duplication	not provided	GPathogenic
Select item 2671595	Single allele	MUC20, MUC4 +286 more	Duplication	not provided	GPathogenic
Select item 2654332	NM_001346.3(DGKG):c.1512T>C (p.Asp504=)	DGKG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2622501	NM_001346.3(DGKG):c.92C>A (p.Ala31Asp)	DGKG (A31D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613594	NM_001346.3(DGKG):c.695T>C (p.Met232Thr)	DGKG (M232T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608950	NM_001346.3(DGKG):c.170T>C (p.Leu57Pro)	DGKG (L57P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597707	NM_001346.3(DGKG):c.14G>A (p.Arg5Gln)	DGKG (R5Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597317	NM_001346.3(DGKG):c.1123C>T (p.Arg375Cys)	DGKG (R336C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529866	NM_001346.3(DGKG):c.281G>A (p.Gly94Glu)	DGKG (G94E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520811	NM_001346.3(DGKG):c.291C>G (p.Asn97Lys)	DGKG (N97K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487874	NM_001346.3(DGKG):c.751A>G (p.Thr251Ala)	DGKG (T251A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485218	NM_001346.3(DGKG):c.506C>A (p.Ser169Tyr)	DGKG (S169Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477047	NM_001346.3(DGKG):c.1456C>G (p.Arg486Gly)	DGKG (R461G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468197	NM_001346.3(DGKG):c.2089G>A (p.Val697Ile)	DGKG (V658I +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2465964	NM_001346.3(DGKG):c.1507A>G (p.Ile503Val)	DGKG (I478V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461503	NM_001346.3(DGKG):c.1798G>C (p.Glu600Gln)	DGKG (E575Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460276	NM_001346.3(DGKG):c.1107C>G (p.Cys369Trp)	DGKG (C369W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2410778	NM_001346.3(DGKG):c.1183C>T (p.Pro395Ser)	DGKG (P356S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393722	NM_001346.3(DGKG):c.1099G>A (p.Val367Met)	DGKG (V367M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2390821	NM_001346.3(DGKG):c.352G>A (p.Glu118Lys)	DGKG (E118K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389914	NM_001346.3(DGKG):c.784G>A (p.Asp262Asn)	DGKG (D262N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385129	NM_001346.3(DGKG):c.422C>T (p.Ala141Val)	DGKG (A141V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373776	NM_001346.3(DGKG):c.448C>T (p.Arg150Trp)	DGKG (R150W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372702	NM_001346.3(DGKG):c.1211A>C (p.Asp404Ala)	DGKG (D365A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354693	NM_001346.3(DGKG):c.2303C>T (p.Ala768Val)	DGKG (A729V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351871	NM_001346.3(DGKG):c.1372C>A (p.Leu458Met)	DGKG (L458M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2341215	NM_001346.3(DGKG):c.400C>T (p.Pro134Ser)	DGKG (P134S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333104	NM_001346.3(DGKG):c.1588C>T (p.Arg530Cys)	DGKG (R530C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317541	NM_001346.3(DGKG):c.1036G>T (p.Val346Phe)	DGKG (V346F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2298031	NM_001346.3(DGKG):c.2333G>C (p.Ser778Thr)	DGKG (S739T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292173	NM_001346.3(DGKG):c.85A>G (p.Lys29Glu)	DGKG (K29E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284406	NM_001346.3(DGKG):c.1124G>A (p.Arg375His)	DGKG (R336H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283330	NM_001346.3(DGKG):c.950A>C (p.Asn317Thr)	DGKG (N317T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283053	NM_001346.3(DGKG):c.340A>T (p.Thr114Ser)	DGKG (T114S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274522	NM_001346.3(DGKG):c.466T>C (p.Ser156Pro)	DGKG (S156P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273187	NM_001346.3(DGKG):c.811C>T (p.Arg271Trp)	DGKG (R271W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272584	NM_001346.3(DGKG):c.1610G>C (p.Gly537Ala)	DGKG (G537A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264664	NM_001346.3(DGKG):c.712G>A (p.Gly238Ser)	DGKG (G238S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255446	NM_001346.3(DGKG):c.305G>A (p.Ser102Asn)	DGKG (S102N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211944	NM_001346.3(DGKG):c.1651C>T (p.Pro551Ser)	DGKG (P551S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211369	NM_001346.3(DGKG):c.1045G>A (p.Asp349Asn)	DGKG (D349N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2211081	NM_001346.3(DGKG):c.2363G>A (p.Arg788His)	DGKG (R749H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210394	NM_001346.3(DGKG):c.1906A>G (p.Ile636Val)	DGKG (I597V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210188	NM_001346.3(DGKG):c.1652C>G (p.Pro551Arg)	DGKG (P512R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809046	GRCh37/hg19 3q27.1-28(chr3:184170962-188047867)x1	ADIPOQ, AHSG +32 more	Copy number loss	not provided	GLikely pathogenic
Select item 1707630	GRCh37/hg19 3q26.31-29(chr3:171558472-197871052)x3	CCDC50, MELTF +155 more	Copy number gain	Isolated anorectal malformation	GLikely pathogenic
Select item 1707428	GRCh37/hg19 3q27.1-29(chr3:183498520-197851986)x3	ABCC5, ABCF3 +118 more	Copy number gain	See cases	GPathogenic
Select item 1703654	GRCh37/hg19 3q27.1-28(chr3:183556940-188083060)	ABCC5, ABCF3 +53 more	Copy number loss	Short stature	GPathogenic
Select item 1527063	GRCh37/hg19 3q27.1-27.3(chr3:183178932-186838042)	ABCC5, ABCF3 +49 more	Copy number loss	not specified	GPathogenic
Select item 1527061	GRCh37/hg19 3q26.33-27.3(chr3:182189525-187212935)	ABCC5, ABCF3 +59 more	Copy number loss	not specified	GPathogenic
Select item 1340541	GRCh37/hg19 3q27.3(chr3:186056143-186306541)x3	CRYGS, DGKG +2 more	Copy number gain	not provided	GUncertain significance
Select item 1328104	GRCh37/hg19 3q26.31-27.3(chr3:175119199-187592480)x3	ABCC5, ABCF3 +82 more	Copy number gain	not provided	GPathogenic
Select item 980557	GRCh37/hg19 3q27.3(chr3:186048846-186298472)x3	DGKG, CRYGS +2 more	Copy number gain	not provided	GUncertain significance
Select item 980554	GRCh37/hg19 3q27.1-27.3(chr3:182877291-186830759)x1	CLCN2, YEATS2 +52 more	Copy number loss	not provided	GPathogenic
Select item 814507	GRCh37/hg19 3q27.2-27.3(chr3:185879162-187446035)x1	ST6GAL1, DNAJB11 +19 more	Copy number loss	not provided	GPathogenic
Select item 814505	GRCh37/hg19 3q27.1-27.3(chr3:183789584-186034649)x1	DVL3, ALG3 +28 more	Copy number loss	not provided	GLikely pathogenic
Select item 814497	GRCh37/hg19 3q26.2-28(chr3:169617690-190593854)x3	FXR1, HTR3D +113 more	Copy number gain	not provided	GPathogenic
Select item 775207	NM_001346.3(DGKG):c.414A>G (p.Gln138=)	DGKG	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 716768	NM_001346.3(DGKG):c.1917G>A (p.Glu639=)	DGKG	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 562850	GRCh37/hg19 3q27.1-29(chr3:184003967-197851986)x3	FYTTD1, FAM43A +103 more	Copy number gain	not provided	GPathogenic
Select item 562848	GRCh37/hg19 3q26.33-28(chr3:182650681-191275809)x1	KNG1, FETUB +75 more	Copy number loss	not provided	GPathogenic
Select item 562847	GRCh37/hg19 3q26.33-29(chr3:182539234-197851986)x3	PPP1R2, TBCCD1 +126 more	Copy number gain	not provided	GPathogenic
Select item 523279	GRCh37/hg19 3q27.1-28(chr3:184300169-188285627)	FETUB, HRG +32 more	Copy number loss	Cognitive impairment +1 more	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 394816	GRCh37/hg19 3q27.2-27.3(chr3:185419048-186575415)x1	ADIPOQ, AHSG +14 more	Copy number loss	See cases	GPathogenic
Select item 393885	GRCh37/hg19 3q25.32-29(chr3:158980631-197766890)x3	ABCC5, ABCF3 +198 more	Copy number gain	See cases	GPathogenic
Select item 253377	GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4	AADAC, AADACL2 +220 more	Copy number gain	See cases	GPathogenic
Select item 155627	GRCh38/hg38 3q26.1-29(chr3:166137209-198125115)x3	LOC129938260, LOC129938261 +1064 more	Copy number gain	See cases	GPathogenic
Select item 154213	GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3	LOC108281160, LOC108281177 +1247 more	Copy number gain	See cases	GPathogenic
Select item 153971	GRCh38/hg38 3q26.33-27.3(chr3:182319764-186443121)x1	ABCC5, ABCC5-AS1 +205 more	Copy number loss	See cases	GLikely pathogenic
Select item 153893	GRCh38/hg38 3q26.1-28(chr3:167717962-188365272)x3	ABCC5, ABCC5-AS1 +627 more	Copy number gain	See cases	GLikely pathogenic
Select item 153734	GRCh38/hg38 3q26.33-28(chr3:181138664-192512023)x1	ABCC5, ABCC5-AS1 +399 more	Copy number loss	See cases	GPathogenic
Select item 152257	GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3	ABCC5, ABCC5-AS1 +1245 more	Copy number gain	See cases	GPathogenic
Select item 151178	GRCh38/hg38 3q27.1-27.2(chr3:184010704-186288926)x1	ABCC5, ABCC5-AS1 +126 more	Copy number loss	See cases	GLikely pathogenic
Select item 150609	GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3	LOC129938169, LOC129938170 +1318 more	Copy number gain	See cases	GPathogenic
Select item 150107	GRCh38/hg38 3q27.2-27.3(chr3:184843627-187461008)x3	ADIPOQ, ADIPOQ-AS1 +131 more	Copy number gain	See cases	GPathogenic
Select item 149685	GRCh38/hg38 3q26.32-29(chr3:176168525-198118383)x3	ZMAT3, ZNF639 +867 more	Copy number gain	See cases	GPathogenic
Select item 148947	GRCh38/hg38 3q26.32-29(chr3:176439911-198118383)x3	LOC129938282, LOC129938283 +866 more	Copy number gain	See cases	GPathogenic
Select item 148198	GRCh38/hg38 3q27.2-27.3(chr3:186009008-186554890)x1	CRYGS, DGKG +24 more	Copy number loss	See cases	GUncertain significance
Select item 148012	GRCh38/hg38 3q26.2-29(chr3:168167568-198110178)x3	LOC129938077, LOC129938078 +1041 more	Copy number gain	See cases	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 57984	GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3	LOC132088897, LOC132088898 +1201 more	Copy number gain	See cases	GPathogenic

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