ClinVar for MedGen (Select 1379216) - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3242175	NM_001080397.3(SLC45A1):c.170G>A (p.Arg57His)	SLC45A1 (R57H)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder with neuropsychiatric features	GUncertain significance
Select item 3236658	NM_001080397.3(SLC45A1):c.1256T>C (p.Leu419Pro)	SLC45A1 (L217P +2 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with neuropsychiatric features	GUncertain significance
Select item 3164866	NM_001080397.3(SLC45A1):c.124C>T (p.Arg42Trp)	SLC45A1 (R42W)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder with neuropsychiatric features +1 more	GUncertain significance
Select item 2585663	NM_001080397.3(SLC45A1):c.1335G>A (p.Pro445=)	SLC45A1	Single nucleotide variant (synonymous variant)	Intellectual developmental disorder with neuropsychiatric features	GBenign
Select item 2342682	NM_001080397.3(SLC45A1):c.86C>T (p.Thr29Met)	SLC45A1 (T29M)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1700243	NM_001080397.3(SLC45A1):c.114C>A (p.His38Gln)	SLC45A1 (H38Q)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder with neuropsychiatric features	GUncertain significance
Select item 1333148	NM_001080397.3(SLC45A1):c.1507G>T (p.Ala503Ser)	SLC45A1 (A301S +2 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with neuropsychiatric features +1 more	GBenign
Select item 1333146	NM_001080397.3(SLC45A1):c.831G>C (p.Leu277=)	SLC45A1	Single nucleotide variant (synonymous variant)	Intellectual developmental disorder with neuropsychiatric features +1 more	GBenign
Select item 1325499	NM_001080397.3(SLC45A1):c.2009G>A (p.Arg670Gln)	SLC45A1 (R468Q +5 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with neuropsychiatric features +1 more	GUncertain significance
Select item 1302025	NM_001080397.3(SLC45A1):c.942A>G (p.Pro314=)	SLC45A1	Single nucleotide variant (synonymous variant)	Intellectual developmental disorder with neuropsychiatric features +1 more	GBenign
Select item 1282969	NM_001080397.3(SLC45A1):c.*20C>T	SLC45A1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 1033650	NM_001080397.3(SLC45A1):c.935C>T (p.Pro312Leu)	SLC45A1 (P110L +2 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with neuropsychiatric features +1 more	GUncertain significance
Select item 1033649	NM_001080397.3(SLC45A1):c.814T>C (p.Phe272Leu)	SLC45A1 (F272L +2 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with neuropsychiatric features +1 more	GUncertain significance
Select item 1029022	NM_001080397.3(SLC45A1):c.938C>G (p.Ser313Cys)	SLC45A1 (S282C +2 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with neuropsychiatric features	GUncertain significance
Select item 1029021	NM_001080397.3(SLC45A1):c.742G>C (p.Val248Leu)	SLC45A1 (V46L +2 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with neuropsychiatric features	GUncertain significance
Select item 1029020	NM_001080397.3(SLC45A1):c.1954C>T (p.Leu652Phe)	SLC45A1 (L450F +5 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with neuropsychiatric features	GUncertain significance
Select item 1029018	NM_001080397.3(SLC45A1):c.1582G>A (p.Val528Ile)	SLC45A1 (V497I +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1029017	NM_001080397.3(SLC45A1):c.1256T>A (p.Leu419Gln)	SLC45A1 (L217Q +2 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with neuropsychiatric features	GUncertain significance
Select item 1029016	NM_001080397.3(SLC45A1):c.110G>T (p.Arg37Leu)	SLC45A1 (R37L)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder with neuropsychiatric features	GUncertain significance
Select item 428599	NM_001080397.3(SLC45A1):c.526C>T (p.Arg176Trp)	SLC45A1 (R145W)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder with neuropsychiatric features	GUncertain significance
Select item 428598	NM_001080397.3(SLC45A1):c.629C>T (p.Ala210Val)	SLC45A1 (A179V +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with neuropsychiatric features	GLikely pathogenic

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Items: 21