7252[geneid] - ClinVar

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Items: 75

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154886	GRCh38/hg38 1p21.1-12(chr1:104325484-119977655)x3	LINC01780, LINC02868 +563 more	Copy number gain	See cases	GPathogenic
Select item 58084	GRCh38/hg38 1p13.3-12(chr1:109756630-118650204)x3	ADORA3, AHCYL1 +391 more	Copy number gain	See cases	GPathogenic
Select item 291984	NM_000549.5(TSHB):c.-13A>G	TSHB	Single nucleotide variant (5 prime UTR variant)	Isolated thyroid-stimulating hormone deficiency	GLikely benign
Select item 1289439	NM_000549.5(TSHB):c.-1-268A>G	TSHB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2997242	NM_000549.5(TSHB):c.12C>T (p.Leu4=)	TSHB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2761301	NM_000549.5(TSHB):c.28del (p.Leu10fs)	TSHB (L10fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 256640	NM_000549.5(TSHB):c.40A>G (p.Thr14Ala)	TSHB (T14A)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 2247733	NM_000549.5(TSHB):c.41C>T (p.Thr14Ile)	TSHB (T14I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3013867	NM_000549.5(TSHB):c.54G>A (p.Ala18=)	TSHB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2802444	NM_000549.5(TSHB):c.81T>C (p.Tyr27=)	TSHB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 748432	NM_000549.5(TSHB):c.93C>T (p.Ile31=)	TSHB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 12685	NM_000549.5(TSHB):c.94G>T (p.Glu32Ter)	TSHB (E32*)	Single nucleotide variant (nonsense)	Isolated thyroid-stimulating hormone deficiency	GPathogenic
Select item 1048762	NM_000549.5(TSHB):c.108_109del (p.Ala37fs)	TSHB (A37fs)	Microsatellite (frameshift variant)	Isolated thyroid-stimulating hormone deficiency	GPathogenic
Select item 3183659	NM_000549.5(TSHB):c.112T>C (p.Tyr38His)	TSHB (Y38H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3006488	NM_000549.5(TSHB):c.132C>T (p.Thr44=)	TSHB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2293363	NM_000549.5(TSHB):c.136A>T (p.Ile46Phe)	TSHB (I46F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3336452	NM_000549.5(TSHB):c.141T>G (p.Cys47Trp)	TSHB (C47W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 12684	NM_000549.5(TSHB):c.145G>A (p.Gly49Arg)	TSHB (G49R)	Single nucleotide variant (missense variant)	Isolated thyroid-stimulating hormone deficiency	GPathogenic
Select item 2709875	NM_000549.5(TSHB):c.159A>G (p.Thr53=)	TSHB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2993875	NM_000549.5(TSHB):c.160C>A (p.Arg54=)	TSHB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 12688	NM_000549.5(TSHB):c.162+5G>A	TSHB	Single nucleotide variant (intron variant)	not provided +1 more	GPathogenic
Select item 3022216	NM_000549.5(TSHB):c.162+16C>T	TSHB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2797233	NM_000549.5(TSHB):c.162+17A>G	TSHB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2793807	NM_000549.5(TSHB):c.162+18C>T	TSHB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1268415	NM_000549.5(TSHB):c.163-112C>G	TSHB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3031621	NM_000549.5(TSHB):c.163-26T>C	TSHB (M1T)	Single nucleotide variant (missense variant +2 more)	TSHB-related disorder	GUncertain significance
Select item 2747256	NM_000549.5(TSHB):c.163-20C>T	TSHB (S3F)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2968374	NM_000549.5(TSHB):c.163-15C>T	TSHB	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2781997	NM_000549.5(TSHB):c.163-10C>G	TSHB (F6L)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3023915	NM_000549.5(TSHB):c.163-4C>G	TSHB	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2778679	NM_000549.5(TSHB):c.163-4C>T	TSHB	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2205401	NM_000549.5(TSHB):c.164A>G (p.Asp55Gly)	TSHB (D55G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 800048	NM_000549.5(TSHB):c.171T>C (p.Asn57=)	TSHB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2790480	NM_000549.5(TSHB):c.174C>A (p.Gly58=)	TSHB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2983603	NM_000549.5(TSHB):c.178C>T (p.Leu60=)	TSHB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 12687	NM_000549.5(TSHB):c.205C>T (p.Gln69Ter)	TSHB (Q24* +1 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 2813408	NM_000549.5(TSHB):c.219A>T (p.Thr73=)	TSHB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2901996	NM_000549.5(TSHB):c.222T>C (p.Tyr74=)	TSHB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 764732	NM_000549.5(TSHB):c.223A>G (p.Arg75Gly)	TSHB (R75G +1 more)	Single nucleotide variant (missense variant)	Isolated thyroid-stimulating hormone deficiency +1 more	GBenign/Likely benign
Select item 2733969	NM_000549.5(TSHB):c.230del (p.Phe77fs)	TSHB (F77fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2793877	NM_000549.5(TSHB):c.237C>T (p.Tyr79=)	TSHB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2714759	NM_000549.5(TSHB):c.243T>C (p.Thr81=)	TSHB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2840951	NM_000549.5(TSHB):c.250del (p.Ile84fs)	TSHB (I39fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3183661	NM_000549.5(TSHB):c.252A>G (p.Ile84Met)	TSHB (I84M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2480134	NM_000549.5(TSHB):c.254C>A (p.Pro85Gln)	TSHB (P40Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 291985	NM_000549.5(TSHB):c.256G>A (p.Gly86Arg)	TSHB (G86R +1 more)	Single nucleotide variant (missense variant)	Isolated thyroid-stimulating hormone deficiency	GUncertain significance
Select item 2999198	NM_000549.5(TSHB):c.258A>T (p.Gly86=)	TSHB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3000502	NM_000549.5(TSHB):c.270T>C (p.His90=)	TSHB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2704915	NM_000549.5(TSHB):c.276T>C (p.Ala92=)	TSHB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2799340	NM_000549.5(TSHB):c.279C>T (p.Pro93=)	TSHB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2900111	NM_000549.5(TSHB):c.285T>C (p.Phe95=)	TSHB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2754974	NM_000549.5(TSHB):c.288C>G (p.Ser96=)	TSHB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 719340	NM_000549.5(TSHB):c.296T>C (p.Val99Ala)	TSHB (V99A +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2789174	NM_000549.5(TSHB):c.300T>A (p.Ala100=)	TSHB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2851996	NM_000549.5(TSHB):c.309T>C (p.Cys103=)	TSHB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2618932	NM_000549.5(TSHB):c.321G>C (p.Lys107Asn)	TSHB (K62N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2639012	NM_000549.5(TSHB):c.349C>T (p.His117Tyr)	TSHB (H117Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2908705	NM_000549.5(TSHB):c.366A>C (p.Thr122=)	TSHB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 437070	NM_000549.5(TSHB):c.373del (p.Cys125fs)	TSHB (C125fs +1 more)	Deletion (frameshift variant)	Isolated thyroid-stimulating hormone deficiency +1 more	GPathogenic
Select item 976259	NM_000549.5(TSHB):c.374G>A (p.Cys125Tyr)	TSHB (C125Y +1 more)	Single nucleotide variant (missense variant)	Isolated thyroid-stimulating hormone deficiency	GUncertain significance
Select item 2802905	NM_000549.5(TSHB):c.399G>T (p.Leu133=)	TSHB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3183662	NM_000549.5(TSHB):c.401T>C (p.Val134Ala)	TSHB (V134A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2907808	NM_000549.5(TSHB):c.414C>G (p.Val138=)	TSHB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 875322	NM_000549.5(TSHB):c.*64T>C	TSHB	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3247895	NC_000001.10:g.(?_115575984)_(115576848_?)del	TSHB	Deletion	not provided	GPathogenic
Select item 3247866	NC_000001.10:g.(?_114437687)_(115576848_?)del	AP4B1, AMPD1 +12 more	Deletion	RASopathy	GUncertain significance
Select item 2685577	GRCh37/hg19 1p13.3-13.1(chr1:110066946-116672408)x1	ADORA3, AHCYL1 +77 more	Copy number loss	not provided	GPathogenic
Select item 2425617	NC_000001.10:g.(?_112318699)_(115576848_?)del	AMPD1, AP4B1 +28 more	Deletion	Hereditary spastic paraplegia 47	GPathogenic
Select item 2424476	NC_000001.10:g.(?_113456513)_(116311162_?)dup	AMPD1, AP4B1 +23 more	Duplication	RASopathy	GUncertain significance
Select item 1527270	GRCh37/hg19 1p13.3-11.2(chr1:111647582-121343783)	NHLH2, NOTCH2 +78 more	Copy number gain	not specified	GPathogenic
Select item 1047871	GRCh37/hg19 1p21.2-12(chr1:102021465-119737478)	ATP1A1, RAP1A +131 more	Copy number loss	Seizure +1 more	GPathogenic
Select item 814118	GRCh37/hg19 1p13.2-13.1(chr1:114024461-116189135)x1	VANGL1, TSHB +20 more	Copy number loss	not provided	GLikely pathogenic
Select item 443336	GRCh37/hg19 1p22.1-11.2(chr1:93837992-121343783)x3	ABCA4, ABCD3 +177 more	Copy number gain	See cases	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic

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Items: 75