ClinVar for Gene (Select 727910) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3326273	NM_001164407.2(TLCD2):c.202G>T (p.Ala68Ser)	TLCD2 (A68S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326272	NM_001164407.2(TLCD2):c.340G>T (p.Val114Leu)	TLCD2 (V114L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326271	NM_001164407.2(TLCD2):c.175G>A (p.Gly59Ser)	TLCD2 (G59S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3243205	NC_000017.10:g.(?_422368)_(8285628_?)dup	FBXO39, FGF11 +209 more	Duplication	not provided	GUncertain significance
Select item 3242329	GRCh37/hg19 17p13.3(chr17:722145-1875784)x1	ABR, BHLHA9 +20 more	Copy number loss	not provided	GUncertain significance
Select item 3177737	NM_001164407.2(TLCD2):c.35C>T (p.Ser12Phe)	TLCD2 (S12F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177736	NM_001164407.2(TLCD2):c.31G>A (p.Ala11Thr)	TLCD2 (A11T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177735	NM_001164407.2(TLCD2):c.226C>A (p.Arg76Ser)	TLCD2 (R76S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063527	GRCh37/hg19 17p13.3(chr17:1505119-3010963)x1	CLUH, DPH1 +26 more	Copy number loss	not specified	GPathogenic
Select item 3063515	GRCh37/hg19 17p13.3(chr17:1483585-1714805)x3	MIR22, PRPF8 +8 more	Copy number gain	not specified	GUncertain significance
Select item 3063489	GRCh37/hg19 17p13.3(chr17:1139864-1703566)x3	BHLHA9, CRK +15 more	Copy number gain	not specified	GPathogenic
Select item 3063486	GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3	ABR, ACADVL +329 more	Copy number gain	not specified	GPathogenic
Select item 3063485	GRCh37/hg19 17p13.3-13.2(chr17:9474-6017500)x1	ABR, ALOX15 +116 more	Copy number loss	not specified	GPathogenic
Select item 2685591	GRCh37/hg19 17p13.3(chr17:1225474-2201587)x1	CRK, DPH1 +21 more	Copy number loss	not provided	GLikely pathogenic
Select item 2685590	GRCh37/hg19 17p13.3-13.2(chr17:526-3441645)x1	ABR, ASPA +57 more	Copy number loss	not provided	GPathogenic
Select item 2684825	GRCh37/hg19 17p13.3(chr17:526-2687966)x3	ABR, BHLHA9 +42 more	Copy number gain	not provided	GPathogenic
Select item 2671597	Single allele	ABR, ALOX15 +80 more	Deletion	not provided	GPathogenic
Select item 2624010	NM_001164407.2(TLCD2):c.98C>G (p.Ala33Gly)	TLCD2 (A33G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	SAT2, SCARF1 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 2462731	NM_001164407.2(TLCD2):c.710G>A (p.Gly237Asp)	TLCD2 (G237D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2445502	NC_000017.10:g.(?_422368)_(2585096_?)dup	ABR, BHLHA9 +37 more	Duplication	not provided	GUncertain significance
Select item 2445495	NC_000017.10:g.(?_422368)_(1945151_?)del	ABR, BHLHA9 +26 more	Deletion	not provided	GPathogenic
Select item 2425641	NC_000017.10:g.(?_422368)_(1680740_?)del	ABR, BHLHA9 +22 more	Deletion	not provided	GUncertain significance
Select item 2425596	NC_000017.10:g.(?_1554096)_(1680740_?)del	MIR22, PRPF8 +4 more	Deletion	not provided	GUncertain significance
Select item 2423901	NC_000017.10:g.(?_1478898)_(1642177_?)del	MIR22, PRPF8 +5 more	Deletion	not provided	GPathogenic
Select item 2411622	NM_001164407.2(TLCD2):c.306G>C (p.Leu102Phe)	TLCD2 (L102F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408631	NM_001164407.2(TLCD2):c.463C>T (p.Arg155Cys)	TLCD2 (R155C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404856	NM_001164407.2(TLCD2):c.388G>A (p.Gly130Ser)	TLCD2 (G130S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398328	NM_001164407.2(TLCD2):c.717G>C (p.Glu239Asp)	TLCD2 (E239D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355251	NM_001164407.2(TLCD2):c.427G>A (p.Ala143Thr)	TLCD2 (A143T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353705	NM_001164407.2(TLCD2):c.152T>C (p.Leu51Pro)	TLCD2 (L51P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351565	NM_001164407.2(TLCD2):c.659G>A (p.Arg220His)	TLCD2 (R220H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296074	NM_001164407.2(TLCD2):c.151C>T (p.Leu51Phe)	TLCD2 (L51F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221707	NM_001164407.2(TLCD2):c.461C>T (p.Ser154Phe)	TLCD2 (S154F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219086	NM_001164407.2(TLCD2):c.364G>A (p.Ala122Thr)	TLCD2 (A122T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808625	GRCh37/hg19 17p13.3(chr17:526-1690452)x1	ABR, BHLHA9 +27 more	Copy number loss	not provided	GPathogenic
Select item 1808588	GRCh37/hg19 17p13.3(chr17:1377247-2455613)x3	DPH1, HIC1 +24 more	Copy number gain	not provided	GUncertain significance
Select item 1807785	GRCh37/hg19 17p13.3-13.2(chr17:1095592-3484368)x3	ASPA, BHLHA9 +46 more	Copy number gain	not provided	GPathogenic
Select item 1400855	NC_000017.10:g.(?_725577)_(1680740_?)dup	ABR, BHLHA9 +17 more	Duplication	not provided	GUncertain significance
Select item 1340108	GRCh37/hg19 17p13.3(chr17:858365-1690452)x3	ABR, BHLHA9 +18 more	Copy number gain	not provided	GPathogenic
Select item 988932	GRCh37/hg19 17p13.3(chr17:722145-1875784)x1	TIMM22, TLCD2 +20 more	Copy number loss	not provided	GUncertain significance
Select item 981204	GRCh37/hg19 17p13.3(chr17:84287-2468384)x1	MNT, MRM3 +39 more	Copy number loss	Distal 17p13.3 microdeletion syndrome	GPathogenic
Select item 932228	GRCh38/hg38 17p13.3(chr17:1113701-1844036)x3	SERPINF1, SERPINF2 +53 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 816554	GRCh37/hg19 17p13.3(chr17:1310685-1690452)x3	CRK, INPP5K +12 more	Copy number gain	not provided	GUncertain significance
Select item 816552	GRCh37/hg19 17p13.3(chr17:1204863-1751418)x3	CRK, INPP5K +14 more	Copy number gain	not provided	GPathogenic
Select item 816550	GRCh37/hg19 17p13.3(chr17:1009449-1722313)x3	ABR, BHLHA9 +16 more	Copy number gain	not provided	GPathogenic
Select item 816504	GRCh37/hg19 17p13.3-13.2(chr17:8547-5627408)x1	ABR, ALOX15 +115 more	Copy number loss	See cases	GPathogenic
Select item 815874	GRCh37/hg19 17p13.3(chr17:525-2221159)x1	ABR, BHLHA9 +36 more	Copy number loss	not provided	GPathogenic
Select item 687701	GRCh37/hg19 17p13.3(chr17:1501331-2832123)x3	CLUH, DPH1 +24 more	Copy number gain	not provided	GPathogenic
Select item 625578	GRCh37/hg19 17p13.3-13.2(chr17:47546-6287620)	ABR, ALOX15 +115 more	Copy number gain	Chromosome 17P13.3, telomeric, duplication syndrome	GPathogenic
Select item 564386	GRCh37/hg19 17p13.3(chr17:1505191-1722313)x3	SERPINF1, MIR22 +8 more	Copy number gain	not provided	GUncertain significance
Select item 564385	GRCh37/hg19 17p13.3(chr17:1180644-1826928)x3	CRK, INPP5K +15 more	Copy number gain	not provided	GPathogenic
Select item 564377	GRCh37/hg19 17p13.3-12(chr17:525-11186432)x3	ABR, ACADVL +240 more	Copy number gain	not provided	GPathogenic
Select item 544685	GRCh37/hg19 17p13.3(chr17:1-2538512)x4,5	INPP5K, LIAT1 +41 more	Copy number gain	Echogenic fetal bowel +4 more	GUncertain significance
Select item 523260	GRCh37/hg19 17p13.3(chr17:1361431-2573023)	DPH1, HIC1 +25 more	Copy number loss	Abnormal facial shape +2 more	GPathogenic
Select item 443660	GRCh37/hg19 17p13.3(chr17:800049-2390454)x1	ABR, BHLHA9 +31 more	Copy number loss	See cases	GPathogenic
Select item 443659	GRCh37/hg19 17p13.3-12(chr17:525-15027737)x3	ABR, ACADVL +250 more	Copy number gain	See cases	GPathogenic
Select item 443265	GRCh37/hg19 17p13.3(chr17:525-2750745)x1	ABR, BHLHA9 +43 more	Copy number loss	See cases	GPathogenic
Select item 443246	GRCh37/hg19 17p13.3(chr17:808735-1850373)x3	ABR, BHLHA9 +20 more	Copy number gain	See cases	GLikely pathogenic
Select item 443023	GRCh37/hg19 17p13.3-13.2(chr17:525-3825428)x1	ABR, ASPA +68 more	Copy number loss	See cases	GPathogenic
Select item 442860	GRCh37/hg19 17p13.3(chr17:525-1968434)x1	ABR, BHLHA9 +35 more	Copy number loss	See cases	GPathogenic
Select item 442755	GRCh37/hg19 17p13.3(chr17:525-2264023)x1	ABR, BHLHA9 +38 more	Copy number loss	See cases	GPathogenic
Select item 442031	GRCh37/hg19 17p13.3-13.2(chr17:525-4151421)x3	ABR, ANKFY1 +72 more	Copy number gain	See cases	GPathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic
Select item 441626	GRCh37/hg19 17p13.3(chr17:936458-1647108)x3	ABR, BHLHA9 +14 more	Copy number gain	See cases	GLikely pathogenic
Select item 395716	GRCh37/hg19 17p13.3-13.1(chr17:1113102-6742486)	AIPL1, ALOX15 +115 more	Copy number gain	See cases	GPathogenic
Select item 395641	GRCh37/hg19 17p13.3(chr17:900530-1747271)x3	ABR, BHLHA9 +18 more	Copy number gain	See cases	GLikely pathogenic
Select item 394875	GRCh37/hg19 17p13.3(chr17:1114083-1784979)x1	RILP, RPA1 +16 more	Copy number loss	See cases	GPathogenic
Select item 394439	GRCh37/hg19 17p13.3(chr17:48858-2940028)x1	NXN, OVCA2 +42 more	Copy number loss	See cases	GPathogenic
Select item 394212	GRCh37/hg19 17p13.3-13.2(chr17:48858-3379400)x1	ABR, ASPA +55 more	Copy number loss	See cases	GPathogenic
Select item 393889	GRCh37/hg19 17p13.3(chr17:6160-2002365)	ABR, BHLHA9 +35 more	Copy number gain	See cases	GPathogenic
Select item 253733	GRCh37/hg19 17p13.3(chr17:1409783-1857577)x1	INPP5K, MIR22 +12 more	Copy number loss	See cases	GUncertain significance
Select item 253507	GRCh37/hg19 17p13.3-13.2(chr17:919381-4046915)x3	ABR, ASPA +60 more	Copy number gain	See cases	GPathogenic
Select item 253440	GRCh37/hg19 17p13.3(chr17:1218064-2619473)x1	MIR212, SCARF1 +28 more	Copy number loss	See cases	GPathogenic
Select item 253349	GRCh37/hg19 17p13.3(chr17:961016-1641881)x3	ABR, BHLHA9 +13 more	Copy number gain	See cases	GLikely pathogenic
Select item 155112	GRCh38/hg38 17p13.3(chr17:1227482-2082382)x1	ABR, BHLHA9 +86 more	Copy number loss	See cases	GLikely pathogenic
Select item 154373	GRCh38/hg38 17p13.3-13.2(chr17:198748-4265640)x1	ABR, ABR-AS1 +303 more	Copy number loss	See cases	GPathogenic
Select item 154232	GRCh38/hg38 17p13.3(chr17:150732-3242868)x1	ABR, ABR-AS1 +224 more	Copy number loss	See cases	GPathogenic
Select item 154089	GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3	ABR, ABR-AS1 +962 more	Copy number gain	See cases	GPathogenic
Select item 153177	GRCh38/hg38 17p13.3-13.2(chr17:150732-5935377)x1	ABR, ABR-AS1 +463 more	Copy number loss	See cases	GPathogenic
Select item 153060	GRCh38/hg38 17p13.3-13.2(chr17:237248-4735533)x1	LOC130059930, LOC130059931 +352 more	Copy number loss	See cases	GPathogenic
Select item 149531	GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3	LOC130059883, LOC130059884 +922 more	Copy number gain	See cases	GPathogenic
Select item 149499	GRCh38/hg38 17p13.3(chr17:1227392-2261993)x1	ABR, BHLHA9 +114 more	Copy number loss	See cases	GPathogenic
Select item 149193	GRCh38/hg38 17p13.3(chr17:162016-2099130)x1	ABR, ABR-AS1 +144 more	Copy number loss	See cases	GLikely pathogenic
Select item 149158	GRCh38/hg38 17p13.3-13.1(chr17:162016-7697012)x1	TRARG1, TRPV1 +651 more	Copy number loss	See cases	GPathogenic
Select item 148875	GRCh38/hg38 17p13.3(chr17:162016-1904358)x1	ABR, ABR-AS1 +102 more	Copy number loss	See cases	GLikely pathogenic
Select item 148529	GRCh38/hg38 17p13.3-13.2(chr17:1348488-3513273)x3	LOC130059937, LOC130059938 +174 more	Copy number gain	See cases	GLikely pathogenic
Select item 147453	GRCh38/hg38 17p13.3(chr17:1227482-2261786)x3	LOC130059912, LOC130059913 +114 more	Copy number gain	See cases	GLikely pathogenic
Select item 146594	GRCh38/hg38 17p13.3-13.2(chr17:226472-3655099)x1	LOC130059869, LOC130059870 +243 more	Copy number loss	See cases	GPathogenic
Select item 146016	GRCh38/hg38 17p13.3(chr17:1209808-1931101)x3	ABR, BHLHA9 +51 more	Copy number gain	See cases	GPathogenic
Select item 145643	GRCh38/hg38 17p13.3(chr17:198748-2685361)x1	LOC130059962, LOC130059963 +197 more	Copy number loss	See cases	GPathogenic
Select item 145642	GRCh38/hg38 17p13.3-13.1(chr17:198748-7491129)x3	LOC130059937, LOC130059938 +604 more	Copy number gain	See cases	GPathogenic
Select item 144699	GRCh38/hg38 17p13.3-13.1(chr17:162088-6959050)x1	ABR, ABR-AS1 +498 more	Copy number loss	See cases	GPathogenic
Select item 144305	GRCh38/hg38 17p13.3(chr17:198748-1920952)x1	ABR, ABR-AS1 +100 more	Copy number loss	See cases	GPathogenic
Select item 59542	GRCh38/hg38 17p13.3-13.2(chr17:193307-5652222)x1	LOC121848004, LOC121848005 +457 more	Copy number loss	See cases	GPathogenic
Select item 58671	GRCh38/hg38 17p13.3(chr17:1287199-3154232)x3	INPP5K, CCDC92B +164 more	Copy number gain	See cases	GPathogenic
Select item 58657	GRCh38/hg38 17p13.3(chr17:445331-2385512)x3	ABR, ABR-AS1 +168 more	Copy number gain	See cases	GPathogenic
Select item 58655	GRCh38/hg38 17p13.3(chr17:436763-2527511)x3	ABR, ABR-AS1 +180 more	Copy number gain	See cases	GPathogenic
Select item 58652	GRCh38/hg38 17p13.3(chr17:234496-2385512)x3	LOC130059867, LOC130059868 +178 more	Copy number gain	See cases	GPathogenic

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