ClinVar for Gene (Select 126860173) - ClinVar

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Links from Gene

Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3113581	NM_001366122.1(KCP):c.1160G>A (p.Gly387Asp)	KCP, LOC126860173 (G387D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113550	NM_001366122.1(KCP):c.1409C>T (p.Thr470Ile)	KCP, LOC126860173 (T470I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113549	NM_001366122.1(KCP):c.1406C>G (p.Pro469Arg)	KCP, LOC126860173 (P469R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113548	NM_001366122.1(KCP):c.1346G>A (p.Cys449Tyr)	KCP, LOC126860173 (C449Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113547	NM_001366122.1(KCP):c.1331G>C (p.Cys444Ser)	KCP, LOC126860173 (C444S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113546	NM_001366122.1(KCP):c.1290G>C (p.Glu430Asp)	KCP, LOC126860173 (E430D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610145	NM_001366122.1(KCP):c.1220C>G (p.Pro407Arg)	KCP, LOC126860173 (P407R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603720	NM_001366122.1(KCP):c.1157G>A (p.Arg386Gln)	KCP, LOC126860173 (R386Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588067	NM_001366122.1(KCP):c.1340G>A (p.Cys447Tyr)	KCP, LOC126860173 (C447Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365593	NM_001366122.1(KCP):c.1342G>A (p.Val448Ile)	KCP, LOC126860173 (V448I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2344394	NM_001366122.1(KCP):c.1324C>T (p.Arg442Trp)	KCP, LOC126860173 (R442W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342120	NM_001366122.1(KCP):c.1325G>A (p.Arg442Gln)	KCP, LOC126860173 (R442Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2318392	NM_001366122.1(KCP):c.1256A>G (p.Gln419Arg)	KCP, LOC126860173 (Q419R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299375	NM_001366122.1(KCP):c.1290G>T (p.Glu430Asp)	KCP, LOC126860173 (E430D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258112	NM_001366122.1(KCP):c.1060C>T (p.Pro354Ser)	KCP, LOC126860173 (P354S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 154485	GRCh38/hg38 7q31.33-33(chr7:124170657-134163594)x1	LOC129999315, LOC129999316 +342 more	Copy number loss	See cases	GPathogenic
Select item 154454	GRCh38/hg38 7q31.32-32.1(chr7:122018122-128907727)x1	AASS, ARF5 +163 more	Copy number loss	See cases	GPathogenic
Select item 153888	GRCh38/hg38 7q32.1(chr7:127817826-129237503)x3	AHCYL2, ATP6V1F +106 more	Copy number gain	See cases	GLikely benign
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	LOC129999548, LOC129999549 +1547 more	Copy number gain	See cases	GPathogenic
Select item 149905	GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3	CADPS2, CALD1 +1380 more	Copy number gain	See cases	GPathogenic
Select item 149172	GRCh38/hg38 7q31.2-33(chr7:117326805-134790689)x1	AASS, AHCYL2 +492 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC129998995, LOC129998996 +2212 more	Copy number gain	See cases	GPathogenic
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CCDC146, CCDC201 +4735 more	Copy number loss	See cases	GPathogenic
Select item 60295	GRCh38/hg38 7q31.33-32.3(chr7:126859732-132750936)x1	LOC129999254, LOC129999255 +284 more	Copy number loss	See cases	GPathogenic
Select item 57379	GRCh38/hg38 7q32.1-33(chr7:128747478-134018250)x3	AHCYL2, ATP6V1F +233 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 25