ClinVar for Gene (Select 6866) - ClinVar

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Links from Gene

Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3351583	NM_013251.4(TAC3):c.99C>T (p.Gly33=)	TAC3	Single nucleotide variant (synonymous variant +1 more)	TAC3-related disorder	GLikely benign
Select item 3244244	NC_000012.11:g.(?_56711393)_(58190366_?)dup	SDR9C7, TSPAN31 +51 more	Duplication	Cataract 15 multiple types +3 more	GUncertain significance
Select item 3173231	NM_013251.4(TAC3):c.91G>C (p.Val31Leu)	TAC3 (V31L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173230	NM_013251.4(TAC3):c.54C>A (p.Ser18Arg)	TAC3 (S18R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173229	NM_013251.4(TAC3):c.218A>T (p.Glu73Val)	TAC3 (E73V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2634863	NM_013251.4(TAC3):c.232G>A (p.Glu78Lys)	TAC3 (E78K)	Single nucleotide variant (missense variant +1 more)	TAC3-related disorder	GUncertain significance
Select item 2548490	NM_013251.4(TAC3):c.218A>G (p.Glu73Gly)	TAC3 (E73G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2498574	GRCh37/hg19 12q13.3-14.1(chr12:57064059-59314016)x1	AGAP2, ARHGAP9 +45 more	Copy number loss	not provided	GLikely pathogenic
Select item 2358988	NM_013251.4(TAC3):c.160C>T (p.His54Tyr)	TAC3 (H54Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2187473	NM_013251.4(TAC3):c.322G>A (p.Val108Ile)	TAC3 (V108I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2075572	NM_013251.4(TAC3):c.209-1G>C	TAC3	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 2055737	NM_013251.4(TAC3):c.231C>T (p.Pro77=)	TAC3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2029736	NM_013251.4(TAC3):c.238+1G>C	TAC3	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1917133	NM_013251.4(TAC3):c.10A>C (p.Met4Leu)	TAC3 (M4L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1294258	NM_013251.4(TAC3):c.*19C>T	TAC3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1269499	NM_013251.4(TAC3):c.-26C>T	TAC3	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1187691	NM_013251.4(TAC3):c.114+200T>C	TAC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 815528	GRCh37/hg19 12q13.2-14.1(chr12:55552371-62126304)x3	AGAP2, ANKRD52 +105 more	Copy number gain	not provided	GPathogenic
Select item 744674	NM_013251.4(TAC3):c.208+9C>T	TAC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 713131	NM_013251.4(TAC3):c.321C>T (p.Asn107=)	TAC3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 677241	NM_013251.4(TAC3):c.114+229C>T	TAC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 677240	NM_013251.4(TAC3):c.114+87G>T	TAC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 675709	NM_013251.4(TAC3):c.292+162A>G	TAC3	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 384464	NM_013251.4(TAC3):c.*2T>C	TAC3	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic
Select item 180155	NM_013251.4(TAC3):c.238C>A (p.Arg80Ser)	TAC3 (R80S +1 more)	Single nucleotide variant (missense variant +1 more)	Delayed puberty +1 more	GLikely pathogenic
Select item 180150	NM_013251.4(TAC3):c.248A>G (p.His83Arg)	TAC3 (H83R)	Single nucleotide variant (missense variant +2 more)	Delayed puberty +1 more	GConflicting classifications of pathogenicity
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 139385	NM_013251.4(TAC3):c.295T>C (p.Ser99Pro)	TAC3 (S99P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 66083	NM_013251.4(TAC3):c.61del (p.Ala21fs)	TAC3 (A21fs)	Deletion (frameshift variant +1 more)	Hypogonadotropic hypogonadism 10 with or without anosmia	GPathogenic
Select item 59019	GRCh38/hg38 12q13.3-14.2(chr12:57013355-63042498)x1	AGAP2, AGAP2-AS1 +199 more	Copy number loss	See cases	GPathogenic
Select item 14027	NM_013251.4(TAC3):c.269T>C (p.Met90Thr)	TAC3 (M90T)	Single nucleotide variant (missense variant +2 more)	Hypogonadotropic hypogonadism 10 without anosmia	GPathogenic

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Links from Gene

Items: 34