CLDN5[gene] and "single gene"[properties] - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1224832	NM_001363066.2(CLDN5):c.*67G>T	CLDN5	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 3369645	NM_001363066.2(CLDN5):c.642_643delinsTT (p.Lys214_Lys215delinsAsnTer)	CLDN5	Indel (nonsense)	not provided	GUncertain significance
Select item 3145518	NM_001363066.2(CLDN5):c.593T>G (p.Val198Gly)	CLDN5 (V198G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2303594	NM_001363066.2(CLDN5):c.526G>T (p.Val176Leu)	CLDN5 (V261L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3365727	NM_001363066.2(CLDN5):c.468G>T (p.Gln156His)	CLDN5 (Q156H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3267623	NM_001363066.2(CLDN5):c.409T>C (p.Cys137Arg)	CLDN5 (C222R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3253428	NM_001363066.2(CLDN5):c.353C>A (p.Ala118Asp)	CLDN5 (A118D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1233946	NM_001363066.2(CLDN5):c.303C>T (p.Gly101=)	CLDN5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3267624	NM_001363066.2(CLDN5):c.253G>A (p.Val85Met)	CLDN5 (V85M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2572405	NM_001363066.2(CLDN5):c.187C>A (p.Gln63Lys)	CLDN5 (Q148K +1 more)	Single nucleotide variant (missense variant)	CLDN5-related neurodevelopmental disorder	GLikely pathogenic
Select item 3067178	NM_001363066.2(CLDN5):c.175_177dup (p.Thr59_Gly60insThr)	CLDN5	Duplication (inframe_insertion +1 more)	CLDN5-related neurodevelopmental disorder	GLikely pathogenic
Select item 2628323	NM_001363066.2(CLDN5):c.178G>A (p.Gly60Arg)	CLDN5 (G145R +1 more)	Single nucleotide variant (missense variant)	CLDN5-related neurodevelopmental disorder	GPathogenic
Select item 984617	NM_001363066.2(CLDN5):c.164T>C (p.Val55Ala)	CLDN5 (V140A +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental abnormality	GUncertain significance
Select item 3340659	NM_001363066.2(CLDN5):c.121G>A (p.Val41Met)	CLDN5 (V126M +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 3371932	NM_001363066.2(CLDN5):c.54G>A (p.Trp18Ter)	CLDN5 (W103* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2341230	NM_001363066.2(CLDN5):c.-29G>A	CLDN5 (G76D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2276021	NM_001363066.2(CLDN5):c.-93G>C	CLDN5 (A55P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3145517	NM_001363066.2(CLDN5):c.-131C>A	CLDN5 (T42N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2506672	NM_001130861.1(CLDN5):c.91G>A (p.Gly31Ser)	CLDN5 (G31S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance