ClinVar for MedGen (Select 355626) - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065869	NM_133261.3(GIPC3):c.592+2T>C	GIPC3	Single nucleotide variant (splice donor variant)	Autosomal recessive nonsyndromic hearing loss 15	GLikely pathogenic
Select item 2689130	NM_133261.3(GIPC3):c.103C>G (p.Pro35Ala)	GIPC3 (P35A)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 15	GUncertain significance
Select item 1301799	NM_133261.3(GIPC3):c.680G>A (p.Gly227Glu)	GIPC3 (G227E)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 15	GUncertain significance
Select item 1245577	NM_133261.3(GIPC3):c.226-22A>G	GIPC3	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 15 +1 more	GBenign
Select item 1185057	NM_133261.3(GIPC3):c.3_594del (p.Met1fs)	GIPC3 (M1fs)	Deletion (frameshift variant +3 more)	Autosomal recessive nonsyndromic hearing loss 15	GLikely pathogenic
Select item 1029068	NM_133261.3(GIPC3):c.592G>T (p.Asp198Tyr)	GIPC3 (D198Y)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 15	GUncertain significance
Select item 1027677	NM_133261.3(GIPC3):c.320G>C (p.Arg107Pro)	GIPC3 (R107P)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 15	GUncertain significance
Select item 773897	NM_133261.3(GIPC3):c.706-3dup	GIPC3	Duplication (intron variant)	Autosomal recessive nonsyndromic hearing loss 15 +2 more	GBenign/Likely benign
Select item 627446	NM_133261.3(GIPC3):c.724G>T (p.Glu242Ter)	GIPC3 (E242*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 15	GPathogenic
Select item 617628	NM_133261.3(GIPC3):c.937T>C (p.Ter313Gln)	GIPC3	Single nucleotide variant (stop lost)	Hearing impairment	GUncertain significance
Select item 517596	NM_133261.3(GIPC3):c.545A>C (p.Lys182Thr)	GIPC3 (K182T)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 504574	NM_133261.3(GIPC3):c.915C>T (p.Gly305=)	GIPC3	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 262317	NM_133261.3(GIPC3):c.57G>T (p.Ala19=)	GIPC3	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 163501	NM_133261.3(GIPC3):c.69G>A (p.Ala23=)	GIPC3	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 15 +2 more	GBenign/Likely benign
Select item 30758	NM_133261.3(GIPC3):c.565C>T (p.Arg189Cys)	GIPC3 (R189C)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 15	GPathogenic
Select item 30757	NM_133261.3(GIPC3):c.136G>A (p.Gly46Arg)	GIPC3 (G46R)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 15	GPathogenic
Select item 30756	NM_133261.3(GIPC3):c.767G>A (p.Gly256Asp)	GIPC3 (G256D)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 15	GPathogenic
Select item 30755	NM_133261.3(GIPC3):c.685dup (p.Ala229fs)	GIPC3 (A229fs)	Duplication (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 15	GPathogenic
Select item 30754	NM_133261.3(GIPC3):c.903G>A (p.Trp301Ter)	GIPC3 (W301*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 15	GPathogenic
Select item 30753	NM_133261.3(GIPC3):c.785T>G (p.Leu262Arg)	GIPC3 (L262R)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 15	GPathogenic

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Items: 20