Related gene-specific medical variations for Gene (Select 54870) - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3360823	NM_198880.3(QRICH1):c.2329_2330dup (p.Ter777CysextTer?)	QRICH1	Duplication (frameshift variant +1 more)	not provided	GUncertain significance
Select item 3360602	NM_198880.3(QRICH1):c.347C>T (p.Ser116Leu)	QRICH1 (S116L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360079	NM_198880.3(QRICH1):c.1158_1159insTTC (p.Ala386_Gln387insPhe)	QRICH1	Insertion (inframe_insertion)	not provided	GUncertain significance
Select item 3359487	NM_198880.3(QRICH1):c.652G>T (p.Ala218Ser)	QRICH1 (A218S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3235950	NM_198880.3:c.309+9376_1339-2808dup	QRICH1	Duplication	Ververi-Brady syndrome	GLikely pathogenic
Select item 2442120	NM_198880.3(QRICH1):c.887G>A (p.Ser296Asn)	QRICH1 (S296N)	Single nucleotide variant (missense variant)	Ververi-Brady syndrome	GUncertain significance
Select item 2435347	NM_198880.3(QRICH1):c.701G>A (p.Arg234Gln)	QRICH1 (R234Q)	Single nucleotide variant (missense variant)	Ververi-Brady syndrome	GUncertain significance
Select item 2435346	NM_198880.3(QRICH1):c.476C>A (p.Pro159His)	QRICH1 (P159H)	Single nucleotide variant (missense variant)	Ververi-Brady syndrome	GUncertain significance
Select item 2435345	NM_198880.3(QRICH1):c.1981C>T (p.Pro661Ser)	QRICH1 (P661S)	Single nucleotide variant (missense variant)	Ververi-Brady syndrome	GUncertain significance
Select item 2432907	NM_198880.3(QRICH1):c.292C>T (p.Gln98Ter)	QRICH1 (Q98*)	Single nucleotide variant (nonsense)	Ververi-Brady syndrome	GLikely pathogenic
Select item 2429823	NM_198880.3(QRICH1):c.728A>C (p.Gln243Pro)	QRICH1 (Q243P)	Single nucleotide variant (missense variant)	Autism spectrum disorder	GUncertain significance
Select item 1696477	NM_198880.3(QRICH1):c.1711G>A (p.Asp571Asn)	QRICH1 (D571N)	Single nucleotide variant (missense variant)	Ververi-Brady syndrome	GUncertain significance
Select item 1676560	NM_017730.4(QRICH1):c.1498A>G (p.Arg500Gly)	QRICH1 (R500G)	Single nucleotide variant	not provided	GUncertain significance