ClinVar for Gene (Select 100507588) - ClinVar

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Links from Gene

Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3325732	NM_001419781.1(TGFBR3L):c.226C>G (p.Pro76Ala)	TGFBR3L (P100A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242628	NC_000019.9:g.(?_5691310)_(8008536_?)dup	ACER1, ACSBG2 +65 more	Duplication	not provided	GUncertain significance
Select item 3176681	NM_001419781.1(TGFBR3L):c.569G>C (p.Ser190Thr)	TGFBR3L (S214T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176679	NM_001419781.1(TGFBR3L):c.434T>C (p.Leu145Pro)	TGFBR3L (L169P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176678	NM_001419781.1(TGFBR3L):c.290C>G (p.Pro97Arg)	TGFBR3L (P121R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176677	NM_001419781.1(TGFBR3L):c.206C>T (p.Ala69Val)	TGFBR3L (A69V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176676	NM_001419781.1(TGFBR3L):c.122T>C (p.Leu41Pro)	TGFBR3L (L41P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176675	NM_001419781.1(TGFBR3L):c.68-10G>T	TGFBR3L (A44S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3176674	NM_001419781.1(TGFBR3L):c.68-13C>G	TGFBR3L (P43A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2611707	NM_001419781.1(TGFBR3L):c.157C>G (p.Arg53Gly)	TGFBR3L (R53G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559894	NM_001419781.1(TGFBR3L):c.466C>T (p.Arg156Trp)	TGFBR3L (R180W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533945	NM_001419781.1(TGFBR3L):c.401T>C (p.Leu134Pro)	TGFBR3L (L134P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528864	NM_001419781.1(TGFBR3L):c.254G>C (p.Cys85Ser)	TGFBR3L (C85S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522958	NM_001419781.1(TGFBR3L):c.191G>T (p.Arg64Leu)	TGFBR3L (R88L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522299	NM_001419781.1(TGFBR3L):c.814C>T (p.Pro272Ser)	TGFBR3L (P272S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2426564	NC_000019.9:g.(?_6361586)_(8212364_?)del	CRB3, CTXN1 +51 more	Deletion	Mucolipidosis type IV	GPathogenic
Select item 2426563	NC_000019.9:g.(?_7586521)_(8670595_?)dup	ADAMTS10, ANGPTL4 +35 more	Duplication	Mucolipidosis type IV	GUncertain significance
Select item 2384711	NM_001419781.1(TGFBR3L):c.650C>G (p.Pro217Arg)	TGFBR3L (P241R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297421	NM_001419781.1(TGFBR3L):c.352C>T (p.Pro118Ser)	LOC130063397, TGFBR3L (P142S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296663	NM_001419781.1(TGFBR3L):c.472G>C (p.Val158Leu)	TGFBR3L (V182L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294209	NM_001419781.1(TGFBR3L):c.275G>A (p.Arg92His)	TGFBR3L (R116H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271993	NM_001419781.1(TGFBR3L):c.325G>C (p.Asp109His)	LOC130063397, TGFBR3L (D133H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270992	NM_001419781.1(TGFBR3L):c.713C>T (p.Ala238Val)	TGFBR3L (A262V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258874	NM_001419781.1(TGFBR3L):c.857C>T (p.Pro286Leu)	TGFBR3L (P310L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244601	NM_001419781.1(TGFBR3L):c.194T>C (p.Val65Ala)	TGFBR3L (V89A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242551	NM_001419781.1(TGFBR3L):c.659C>G (p.Pro220Arg)	TGFBR3L (P244R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 831037	NC_000019.9:g.(?_7587617)_(8373194_?)dup	PCP2, PET100 +24 more	Duplication	Familial hemophagocytic lymphohistiocytosis 5	GUncertain significance
Select item 816064	GRCh37/hg19 19p13.2(chr19:7657490-8569762)x3	ANGPTL4, CAMSAP3 +30 more	Copy number gain	not provided	GUncertain significance
Select item 564607	GRCh37/hg19 19p13.3-13.2(chr19:3120160-9732820)x3	ACER1, ACSBG2 +165 more	Copy number gain	not provided	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 59082	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	LOC130063254, LOC130063255 +810 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 32