ClinVar for MedGen (Select 934709) - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064762	NM_001031710.3(KLHL7):c.317+4A>G	KLHL7	Single nucleotide variant (intron variant)	PERCHING syndrome	GUncertain significance
Select item 3024162	NM_001031710.3(KLHL7):c.254T>G (p.Val85Gly)	KLHL7 (V37G +1 more)	Single nucleotide variant (missense variant +1 more)	PERCHING syndrome	GUncertain significance
Select item 2920712	NM_001031710.3(KLHL7):c.619-349A>G	KLHL7	Single nucleotide variant (intron variant)	PERCHING syndrome	GLikely pathogenic
Select item 1527856	NM_001031710.3(KLHL7):c.642G>C (p.Trp214Cys)	KLHL7 (W166C +1 more)	Single nucleotide variant (missense variant +1 more)	PERCHING syndrome	GPathogenic
Select item 1341505	NM_001031710.3(KLHL7):c.944del (p.Ser315fs)	KLHL7 (S267fs +1 more)	Deletion (frameshift variant +1 more)	PERCHING syndrome	GLikely pathogenic
Select item 1228389	NM_001031710.3(KLHL7):c.815T>C (p.Leu272Pro)	KLHL7 (L224P +1 more)	Single nucleotide variant (missense variant +1 more)	PERCHING syndrome	GLikely pathogenic
Select item 1228387	NM_001031710.3(KLHL7):c.223+5G>C	KLHL7	Single nucleotide variant (intron variant)	PERCHING syndrome	GLikely pathogenic
Select item 1228383	NM_001031710.3(KLHL7):c.1114C>T (p.Arg372Ter)	KLHL7 (R324* +1 more)	Single nucleotide variant (nonsense +1 more)	PERCHING syndrome	GPathogenic
Select item 1030980	NM_001031710.3(KLHL7):c.807C>A (p.Tyr269Ter)	KLHL7 (Y269* +1 more)	Single nucleotide variant (nonsense +1 more)	PERCHING syndrome	GPathogenic
Select item 816804	NM_001031710.3(KLHL7):c.565C>T (p.Arg189Ter)	KLHL7 (R141* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic
Select item 804273	NM_001031710.3(KLHL7):c.1051C>T (p.Arg351Ter)	KLHL7 (R351* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GPathogenic
Select item 802302	NM_001031710.3(KLHL7):c.936+3731_936+3735del	KLHL7	Deletion (intron variant)	PERCHING syndrome	GBenign
Select item 802301	NM_001031710.3(KLHL7):c.121-5814A>G	KLHL7	Single nucleotide variant (non-coding transcript variant +1 more)	PERCHING syndrome	GBenign
Select item 487514	NM_001031710.3(KLHL7):c.618+1G>A	KLHL7	Single nucleotide variant (splice donor variant)	Distal arthrogryposis +1 more	GLikely pathogenic
Select item 452804	NM_001031710.3(KLHL7):c.793+5G>C	KLHL7	Single nucleotide variant (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 430626	NM_001031710.3(KLHL7):c.178GTT[1] (p.Val61del)	KLHL7 (V61del +1 more)	Microsatellite (inframe_deletion +1 more)	PERCHING syndrome	GConflicting classifications of pathogenicity
Select item 359798	NM_001031710.3(KLHL7):c.352C>T (p.Leu118=)	KLHL7	Single nucleotide variant (synonymous variant +1 more)	PERCHING syndrome +2 more	GBenign
Select item 279824	NM_001031710.3(KLHL7):c.976C>T (p.Arg326Ter)	KLHL7 (R326* +1 more)	Single nucleotide variant (nonsense +1 more)	Retinal dystrophy +3 more	GConflicting classifications of pathogenicity
Select item 226130	NM_001031710.3(KLHL7):c.1115G>A (p.Arg372Gln)	KLHL7 (R372Q +1 more)	Single nucleotide variant (missense variant +1 more)	PERCHING syndrome +1 more	GPathogenic
Select item 226129	NM_001031710.3(KLHL7):c.1022del (p.Leu341fs)	KLHL7 (L293fs +1 more)	Deletion (frameshift variant +1 more)	PERCHING syndrome +1 more	GPathogenic
Select item 226128	NM_001031710.3(KLHL7):c.1258C>T (p.Arg420Cys)	KLHL7 (R420C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 226127	NM_001031710.3(KLHL7):c.1261T>A (p.Cys421Ser)	KLHL7 (C421S +1 more)	Single nucleotide variant (missense variant +1 more)	PERCHING syndrome +1 more	GPathogenic

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Items: 22