"TSHZ1-related condition"[Disease/phenotype] AND "PreventionGenetics, - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3043118	NM_001308210.2(TSHZ1):c.127A>G (p.Ser43Gly)	TSHZ1 (S43G)	Single nucleotide variant (missense variant +1 more)	TSHZ1-related condition	GBenign
Select item 2628706	NM_001308210.2(TSHZ1):c.227C>T (p.Ser76Leu)	TSHZ1 (S31L +1 more)	Single nucleotide variant (missense variant)	TSHZ1-related condition	GUncertain significance
Select item 2648812	NM_001308210.2(TSHZ1):c.276C>T (p.Ser92=)	TSHZ1	Single nucleotide variant (synonymous variant)	TSHZ1-related condition +1 more	GLikely benign
Select item 1260276	NM_001308210.2(TSHZ1):c.315C>T (p.Ser105=)	TSHZ1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 3043492	NM_001308210.2(TSHZ1):c.375C>T (p.Ser125=)	TSHZ1	Single nucleotide variant (synonymous variant)	TSHZ1-related condition	GLikely benign
Select item 3054263	NM_001308210.2(TSHZ1):c.439G>T (p.Asp147Tyr)	TSHZ1 (D102Y +1 more)	Single nucleotide variant (missense variant)	TSHZ1-related condition	GUncertain significance
Select item 3040173	NM_001308210.2(TSHZ1):c.465C>G (p.Ala155=)	TSHZ1	Single nucleotide variant (synonymous variant)	TSHZ1-related condition	GLikely benign
Select item 3050644	NM_001308210.2(TSHZ1):c.470C>T (p.Thr157Ile)	TSHZ1 (T112I +1 more)	Single nucleotide variant (missense variant)	TSHZ1-related condition	GBenign
Select item 327802	NM_001308210.2(TSHZ1):c.503C>T (p.Thr168Ile)	TSHZ1 (T123I +1 more)	Single nucleotide variant (missense variant)	TSHZ1-related condition +1 more	GBenign/Likely benign
Select item 3040410	NM_001308210.2(TSHZ1):c.544A>G (p.Ser182Gly)	TSHZ1 (S137G +1 more)	Single nucleotide variant (missense variant)	TSHZ1-related condition	GLikely benign
Select item 3043957	NM_001308210.2(TSHZ1):c.615C>T (p.Ala205=)	TSHZ1	Single nucleotide variant (synonymous variant)	TSHZ1-related condition	GBenign
Select item 3053365	NM_001308210.2(TSHZ1):c.621G>A (p.Thr207=)	TSHZ1	Single nucleotide variant (synonymous variant)	TSHZ1-related condition	GLikely benign
Select item 327806	NM_001308210.2(TSHZ1):c.642T>C (p.Tyr214=)	TSHZ1	Single nucleotide variant (synonymous variant)	TSHZ1-related condition +1 more	GBenign
Select item 3045105	NM_001308210.2(TSHZ1):c.726C>T (p.Gly242=)	TSHZ1	Single nucleotide variant (synonymous variant)	TSHZ1-related condition	GLikely benign
Select item 3042572	NM_001308210.2(TSHZ1):c.777G>A (p.Val259=)	TSHZ1	Single nucleotide variant (synonymous variant)	TSHZ1-related condition	GBenign
Select item 3055921	NM_001308210.2(TSHZ1):c.849C>G (p.Thr283=)	TSHZ1	Single nucleotide variant (synonymous variant)	TSHZ1-related condition	GBenign
Select item 3043497	NM_001308210.2(TSHZ1):c.975C>T (p.His325=)	TSHZ1	Single nucleotide variant (synonymous variant)	TSHZ1-related condition	GLikely benign
Select item 3037097	NM_001308210.2(TSHZ1):c.1081C>T (p.Pro361Ser)	TSHZ1 (P316S +1 more)	Single nucleotide variant (missense variant)	TSHZ1-related condition	GUncertain significance
Select item 3048866	NM_001308210.2(TSHZ1):c.1275C>T (p.His425=)	TSHZ1	Single nucleotide variant (synonymous variant)	TSHZ1-related condition	GLikely benign
Select item 3030887	NM_001308210.2(TSHZ1):c.1340C>T (p.Ser447Leu)	LOC125371439, TSHZ1 (S402L +1 more)	Single nucleotide variant (missense variant)	TSHZ1-related condition	GUncertain significance
Select item 2602111	NM_001308210.2(TSHZ1):c.1526T>A (p.Val509Glu)	LOC125371439, TSHZ1 (V464E +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3038388	NM_001308210.2(TSHZ1):c.1539G>T (p.Ala513=)	LOC125371439, TSHZ1	Single nucleotide variant (synonymous variant)	TSHZ1-related condition	GBenign
Select item 3050403	NM_001308210.2(TSHZ1):c.1626C>T (p.Asp542=)	TSHZ1	Single nucleotide variant (synonymous variant)	TSHZ1-related condition	GLikely benign
Select item 2368145	NM_001308210.2(TSHZ1):c.1786G>A (p.Val596Met)	TSHZ1 (V596M +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 327826	NM_001308210.2(TSHZ1):c.1843G>A (p.Ala615Thr)	TSHZ1 (A570T +1 more)	Single nucleotide variant (missense variant)	TSHZ1-related condition	GBenign
Select item 2354964	NM_001308210.2(TSHZ1):c.1906G>A (p.Val636Met)	TSHZ1 (V591M +1 more)	Single nucleotide variant (missense variant)	TSHZ1-related condition +1 more	GConflicting classifications of pathogenicity
Select item 3034872	NM_001308210.2(TSHZ1):c.1941G>A (p.Thr647=)	TSHZ1	Single nucleotide variant (synonymous variant)	TSHZ1-related condition	GLikely benign
Select item 3036915	NM_001308210.2(TSHZ1):c.1983G>A (p.Lys661=)	TSHZ1	Single nucleotide variant (synonymous variant)	TSHZ1-related condition	GLikely benign
Select item 2209228	NM_001308210.2(TSHZ1):c.2012C>G (p.Ser671Cys)	TSHZ1 (S671C +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2632009	NM_001308210.2(TSHZ1):c.2039T>C (p.Phe680Ser)	TSHZ1 (F635S +1 more)	Single nucleotide variant (missense variant)	TSHZ1-related condition	GUncertain significance
Select item 2648813	NM_001308210.2(TSHZ1):c.2042C>T (p.Pro681Leu)	TSHZ1 (P636L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 3038380	NM_001308210.2(TSHZ1):c.2201T>C (p.Met734Thr)	TSHZ1 (M689T +1 more)	Single nucleotide variant (missense variant)	TSHZ1-related condition	GBenign
Select item 3043215	NM_001308210.2(TSHZ1):c.2372C>G (p.Pro791Arg)	TSHZ1 (P746R +1 more)	Single nucleotide variant (missense variant)	TSHZ1-related condition	GLikely benign
Select item 3041911	NM_001308210.2(TSHZ1):c.2418C>T (p.Ser806=)	TSHZ1	Single nucleotide variant (synonymous variant)	TSHZ1-related condition	GLikely benign
Select item 2648814	NM_001308210.2(TSHZ1):c.2470G>A (p.Val824Met)	TSHZ1 (V779M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 3035455	NM_001308210.2(TSHZ1):c.2726G>A (p.Arg909Gln)	TSHZ1 (R864Q +1 more)	Single nucleotide variant (missense variant)	TSHZ1-related condition	GLikely benign
Select item 768943	NM_001308210.2(TSHZ1):c.2814C>T (p.Thr938=)	TSHZ1	Single nucleotide variant (synonymous variant)	TSHZ1-related condition +1 more	GBenign
Select item 3030628	NM_001308210.2(TSHZ1):c.2866G>A (p.Gly956Arg)	TSHZ1 (G911R +1 more)	Single nucleotide variant (missense variant)	TSHZ1-related condition	GUncertain significance
Select item 3038628	NM_001308210.2(TSHZ1):c.3073C>T (p.Pro1025Ser)	TSHZ1 (P980S +1 more)	Single nucleotide variant (missense variant)	TSHZ1-related condition	GBenign
Select item 3034213	NM_001308210.2(TSHZ1):c.3141G>A (p.Ala1047=)	TSHZ1	Single nucleotide variant (synonymous variant)	TSHZ1-related condition	GBenign

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Items: 40