TBC1D3H[gene] - ClinVar

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Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58166	GRCh37/hg19 17q12(chr17:34310998-36297053)x3	AATF, ACACA +48 more	Copy number gain	See cases	GPathogenic
Select item 151517	GRCh37/hg19 17q12(chr17:34360168-36248859)x1	AATF, ACACA +44 more	Copy number loss	See cases	GPathogenic
Select item 58167	GRCh37/hg19 17q12(chr17:34360168-36209228)x3	AATF, ACACA +44 more	Copy number gain	See cases	GPathogenic
Select item 153446	GRCh37/hg19 17q12(chr17:34437482-36244358)x3	AATF, ACACA +39 more	Copy number gain	See cases	GLikely pathogenic
Select item 160929	GRCh37/hg19 17q12(chr17:34508117-36248918)x3	AATF, ACACA +39 more	Copy number gain	See cases	GPathogenic
Select item 60470	GRCh37/hg19 17q12(chr17:34508117-36173763)x1	AATF, ACACA +38 more	Copy number loss	See cases	GPathogenic
Select item 32504	GRCh37/hg19 17q12(chr17:34508117-36248918)x3	AATF, ACACA +39 more	Copy number gain	See cases	GPathogenic
Select item 149439	GRCh38/hg38 17q12(chr17:36104374-36421711)x3	CCL3L3, CCL4 +5 more	Copy number gain	See cases	GLikely benign
Select item 2499653	GRCh38/hg38 17q12(chr17:36138501-37924067)	AATF, ACACA +41 more	Copy number gain	Anomalous pulmonary venous return	GPathogenic
Select item 545219	NC_000017.11:g.(?_36143765)_(37995300_?)del	AATF, ACACA +42 more	Deletion	Autism	GPathogenic
Select item 150667	GRCh38/hg38 17q12(chr17:36167804-36421711)x3	CCL3L3, CCL4L2 +4 more	Copy number gain	See cases	GLikely benign
Select item 545221	Single allele	AATF, ACACA +37 more	Duplication	Autism	GLikely pathogenic
Select item 545220	NC_000017.11:g.(?_36357256)_(37995300_?)del	AATF, ACACA +37 more	Deletion	Schizophrenia	GPathogenic
Select item 161041	GRCh38/hg38 17q12(chr17:36357258-37889296)x1	AATF, ACACA +35 more	Copy number loss	See cases	GPathogenic
Select item 160879	GRCh38/hg38 17q12(chr17:36357258-37889296)x3	AATF, ACACA +35 more	Copy number gain	See cases	GPathogenic
Select item 149866	GRCh38/hg38 17q12(chr17:36357258-38225796)x3	AATF, ACACA +41 more	Copy number gain	See cases	GLikely pathogenic
Select item 57382	GRCh38/hg38 17q12(chr17:36357258-37889296)x1	AATF, ACACA +35 more	Copy number loss	See cases	GPathogenic
Select item 2390068	NM_001123392.4(TBC1D3H):c.1572A>C (p.Glu524Asp)	TBC1D3H (E524D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302341	NM_001123392.4(TBC1D3H):c.1501C>T (p.Arg501Trp)	TBC1D3H (R501W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345180	NM_001123392.4(TBC1D3H):c.1334G>A (p.Gly445Asp)	TBC1D3H (G445D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466347	NM_001123392.4(TBC1D3H):c.1307C>T (p.Pro436Leu)	TBC1D3H (P436L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394058	NM_001123392.4(TBC1D3H):c.1300C>T (p.Pro434Ser)	TBC1D3H (P434S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568650	NM_001123392.4(TBC1D3H):c.1265G>C (p.Arg422Pro)	TBC1D3H (R422P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361373	NM_001123392.4(TBC1D3H):c.1223G>C (p.Arg408Pro)	TBC1D3H (R408P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204870	NM_001123392.4(TBC1D3H):c.1223G>A (p.Arg408Gln)	TBC1D3H (R408Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346255	NM_001123392.4(TBC1D3H):c.1186C>T (p.Arg396Trp)	TBC1D3H (R396W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324712	NM_001123392.4(TBC1D3H):c.1156G>A (p.Asp386Asn)	TBC1D3H (D386N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209161	NM_001123392.4(TBC1D3H):c.1139A>G (p.Lys380Arg)	TBC1D3H (K380R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509367	NM_001123392.4(TBC1D3H):c.1120C>A (p.Pro374Thr)	TBC1D3H (P374T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491248	NM_001123392.4(TBC1D3H):c.1117G>A (p.Val373Met)	TBC1D3H (V373M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478612	NM_001123392.4(TBC1D3H):c.1103C>T (p.Ser368Leu)	TBC1D3H (S368L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 147978	GRCh38/hg38 17q12(chr17:36379367-36387940)x1	TBC1D3H	Copy number loss	See cases	GBenign
Select item 2378533	NM_001123392.4(TBC1D3H):c.464A>G (p.Lys155Arg)	TBC1D3H (K155R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387264	NM_001123392.4(TBC1D3H):c.194C>T (p.Ala65Val)	TBC1D3H (A65V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554817	NM_001123392.4(TBC1D3H):c.160G>A (p.Glu54Lys)	TBC1D3H (E54K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242217	GRCh37/hg19 17q12-22(chr17:41196270-41277589)	SLC4A1, DCAKD +422 more	Copy number loss	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 3063498	GRCh37/hg19 17q12(chr17:34425362-36371146)x3	AATF, ACACA +23 more	Copy number gain	not specified	GPathogenic
Select item 2684846	GRCh37/hg19 17q12(chr17:34440083-36410559)x3	AATF, ACACA +22 more	Copy number gain	not provided	GPathogenic
Select item 2580315	GRCh37/hg19 17q12(chr17:34752221-36105007)x3	AATF, ACACA +14 more	Copy number gain	Chromosome 17q12 deletion syndrome	GPathogenic
Select item 2574697	GRCh37/hg19 17q11.2-12(chr17:30572862-35843988)	AATF, ACACA +66 more	Copy number loss	Chromosome 17q12 deletion syndrome	GPathogenic
Select item 1807768	GRCh37/hg19 17q12(chr17:34425363-36404555)x3	AATF, ACACA +23 more	Copy number gain	not provided	GPathogenic
Select item 1703619	GRCh37/hg19 17q12(chr17:34463923-36410559)	AATF, ACACA +22 more	Copy number loss	Chromosome 17q12 deletion syndrome	GPathogenic
Select item 997073	GRCh37/hg19 17q12(chr17:34437475-36243028)	AATF, ACACA +20 more	Copy number gain	Polyhydramnios +1 more	GPathogenic
Select item 980717	GRCh37/hg19 17q12(chr17:34405241-34823294)x1	CCL3, CCL3L1 +7 more	Copy number loss	not provided	GUncertain significance
Select item 686144	GRCh37/hg19 17p11.2-q21.2(chr17:21690653-38772647)x3	AATF, ABHD15 +201 more	Copy number gain	not provided	GPathogenic
Select item 625732	GRCh37/hg19 17q12(chr17:34437475-36214026)	AATF, ACACA +20 more	Copy number gain	Chromosome 17q12 duplication syndrome	GPathogenic
Select item 564434	GRCh37/hg19 17q12(chr17:34477385-36404555)x1	AATF, ACACA +22 more	Copy number loss	not provided	GPathogenic
Select item 564433	GRCh37/hg19 17q12(chr17:34475679-36311009)x1	AATF, ACACA +21 more	Copy number loss	not provided	GPathogenic
Select item 564432	GRCh37/hg19 17q12(chr17:34426244-36225988)x3	AATF, ACACA +21 more	Copy number gain	not provided	GPathogenic
Select item 564431	GRCh37/hg19 17q12(chr17:34425362-36283612)x3	AATF, ACACA +21 more	Copy number gain	not provided	GPathogenic
Select item 523265	GRCh37/hg19 17q12(chr17:34611352-36248918)	DDX52, DHRS11 +16 more	Copy number gain	Lower limb muscle weakness +2 more	GPathogenic
Select item 443554	GRCh37/hg19 17q12(chr17:34437482-36404555)x3	AATF, ACACA +22 more	Copy number gain	See cases	GLikely pathogenic
Select item 442610	GRCh37/hg19 17q12(chr17:34475679-36283612)x1	AATF, ACACA +20 more	Copy number loss	See cases	GPathogenic
Select item 442573	GRCh37/hg19 17q12(chr17:34447113-36283612)x1	AATF, ACACA +20 more	Copy number loss	See cases	GPathogenic
Select item 442359	GRCh37/hg19 17q12(chr17:34437482-36350584)x3	CCL3L1, AATF +22 more	Copy number gain	See cases	GLikely pathogenic
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 209211	NC_000017.10:g.(34360227_34437475)_(36214026_36473024)del	CCL4L1, CCL4L2 +26 more	Deletion	Chromosome 17q12 deletion syndrome	GPathogenic
Select item 150878	GRCh37/hg19 17q12(chr17:34431767-34775684)x3	CCL3L1, CCL3L3 +6 more	Copy number gain	See cases	GLikely benign
Select item 144179	GRCh37/hg19 17q12(chr17:34450405-36248918)x1	AATF, ACACA +20 more	Copy number loss	See cases	GPathogenic
Select item 32239	GRCh37/hg19 17q12(chr17:34611352-36248918)x3	AATF, ACACA +16 more	Copy number gain	See cases	GPathogenic

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Items: 61