LHX1[gene] and "single gene"[properties] - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2553507	NM_005568.5(LHX1):c.97G>C (p.Glu33Gln)	LHX1 (E33Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3057142	NM_005568.5(LHX1):c.169C>A (p.Arg57=)	LHX1	Single nucleotide variant (synonymous variant)	LHX1-related disorder	GBenign
Select item 3044599	NM_005568.5(LHX1):c.171-5del	LHX1	Deletion (intron variant)	LHX1-related disorder	GLikely benign
Select item 2596272	NM_005568.5(LHX1):c.171G>A (p.Arg57=)	LHX1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3290612	NM_005568.5(LHX1):c.241A>G (p.Ser81Gly)	LHX1 (S81G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2606361	NM_005568.5(LHX1):c.392A>C (p.His131Pro)	LHX1 (H131P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3038454	NM_005568.5(LHX1):c.405G>A (p.Thr135=)	LHX1	Single nucleotide variant (synonymous variant)	LHX1-related disorder	GBenign
Select item 3038676	NM_005568.5(LHX1):c.416C>A (p.Pro139His)	LHX1 (P139H)	Single nucleotide variant (missense variant)	LHX1-related disorder	GBenign
Select item 2320482	NM_005568.5(LHX1):c.520C>A (p.Gln174Lys)	LHX1 (Q174K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2290939	NM_005568.5(LHX1):c.524A>G (p.Asn175Ser)	LHX1 (N175S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3118652	NM_005568.5(LHX1):c.532G>A (p.Ala178Thr)	LHX1 (A178T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3045827	NM_005568.5(LHX1):c.621C>T (p.Arg207=)	LHX1	Single nucleotide variant (synonymous variant)	LHX1-related disorder	GLikely benign
Select item 3118653	NM_005568.5(LHX1):c.875A>G (p.Asn292Ser)	LHX1 (N292S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2494579	NM_005568.5(LHX1):c.902C>A (p.Pro301Gln)	LHX1 (P301Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2454796	NM_005568.5(LHX1):c.920C>T (p.Thr307Ile)	LHX1 (T307I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2412050	NM_005568.5(LHX1):c.949T>A (p.Ser317Thr)	LHX1 (S317T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3118654	NM_005568.5(LHX1):c.968C>T (p.Pro323Leu)	LHX1 (P323L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3290613	NM_005568.5(LHX1):c.1003C>A (p.His335Asn)	LHX1 (H335N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3118650	NM_005568.5(LHX1):c.1019C>T (p.Ala340Val)	LHX1 (A340V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3056351	NM_005568.5(LHX1):c.1020G>A (p.Ala340=)	LHX1	Single nucleotide variant (synonymous variant)	LHX1-related disorder	GLikely benign
Select item 3118651	NM_005568.5(LHX1):c.1051C>G (p.Pro351Ala)	LHX1 (P351A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2364353	NM_005568.5(LHX1):c.1097A>G (p.His366Arg)	LHX1 (H366R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3039491	NM_005568.5(LHX1):c.1098C>T (p.His366=)	LHX1	Single nucleotide variant (synonymous variant)	LHX1-related disorder	GBenign
Select item 2463225	NM_005568.5(LHX1):c.1111G>A (p.Glu371Lys)	LHX1 (E371K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2647692	NM_005568.5(LHX1):c.1149G>A (p.Ser383=)	LHX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3055916	NM_005568.5(LHX1):c.1162G>T (p.Ala388Ser)	LHX1 (A388S)	Single nucleotide variant (missense variant)	LHX1-related disorder	GLikely benign
Select item 3046967	NM_005568.5(LHX1):c.1188C>T (p.His396=)	LHX1	Single nucleotide variant (synonymous variant)	LHX1-related disorder	GLikely benign
Select item 3039185	NM_005568.5(LHX1):c.1215G>A (p.Val405=)	LHX1	Single nucleotide variant (synonymous variant)	LHX1-related disorder	GLikely benign

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Items: 28