C4721891[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 64478	NM_148960.3(CLDN19):c.671T>A (p.Val224Glu)	CLDN19 (V224E)	Single nucleotide variant (3 prime UTR variant +1 more)	Renal hypomagnesemia 5 with ocular involvement +1 more	GUncertain significance
Select item 1367851	NM_148960.3(CLDN19):c.658G>T (p.Gly220Cys)	CLDN19 (G220C)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 1482094	NM_148960.3(CLDN19):c.652G>A (p.Ala218Thr)	CLDN19 (A218T)	Single nucleotide variant (3 prime UTR variant +1 more)	Renal hypomagnesemia 5 with ocular involvement +1 more	GUncertain significance
Select item 836436	NM_148960.3(CLDN19):c.646G>A (p.Ala216Thr)	CLDN19 (A216T)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GUncertain significance
Select item 1312891	NM_148960.3(CLDN19):c.622C>T (p.Arg208Ter)	CLDN19 (R208*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GUncertain significance
Select item 875465	NM_148960.3(CLDN19):c.560C>T (p.Pro187Leu)	CLDN19 (P187L +1 more)	Single nucleotide variant (missense variant)	Renal hypomagnesemia 5 with ocular involvement +1 more	GUncertain significance
Select item 954207	NM_148960.3(CLDN19):c.526G>A (p.Val176Met)	CLDN19 (V176M)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 875468	NM_148960.3(CLDN19):c.350G>A (p.Arg117His)	CLDN19 (R117H)	Single nucleotide variant (missense variant)	Renal hypomagnesemia 5 with ocular involvement	GUncertain significance
Select item 1001421	NM_148960.3(CLDN19):c.349C>T (p.Arg117Cys)	CLDN19 (R117C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 297343	NM_148960.3(CLDN19):c.335C>T (p.Pro112Leu)	CLDN19 (P112L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1499546	NM_148960.3(CLDN19):c.314C>T (p.Thr105Met)	CLDN19 (T105M)	Single nucleotide variant (missense variant)	Renal hypomagnesemia 5 with ocular involvement +1 more	GUncertain significance
Select item 1053033	NM_148960.3(CLDN19):c.229A>G (p.Ile77Val)	CLDN19 (I77V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1394901	NM_148960.3(CLDN19):c.206C>T (p.Ser69Leu)	CLDN19 (S69L)	Single nucleotide variant (missense variant)	Renal hypomagnesemia 5 with ocular involvement +2 more	GUncertain significance
Select item 1529757	NM_148960.3(CLDN19):c.129C>T (p.Ala43=)	CLDN19	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1333489	NM_148960.3(CLDN19):c.83C>T (p.Pro28Leu)	CLDN19 (P28L)	Single nucleotide variant (missense variant)	Renal hypomagnesemia 5 with ocular involvement	GLikely pathogenic
Select item 1361	NM_148960.3(CLDN19):c.59G>A (p.Gly20Asp)	CLDN19 (G20D)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 873596	NM_148960.3(CLDN19):c.-150C>T	CLDN19	Single nucleotide variant (5 prime UTR variant)	Renal hypomagnesemia 5 with ocular involvement	GUncertain significance