Related gene-specific medical variations for Gene (Select 56132) - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3209733	NM_018937.5(PCDHB3):c.349G>A (p.Val117Ile)	PCDHB3, PCDHB@ (V117I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3209732	NM_018937.5(PCDHB3):c.2387G>C (p.Ser796Thr)	PCDHB3, PCDHB@ (S796T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209731	NM_018937.5(PCDHB3):c.2222G>T (p.Gly741Val)	PCDHB3, PCDHB@ (G741V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209730	NM_018937.5(PCDHB3):c.2192C>G (p.Pro731Arg)	PCDHB3, PCDHB@ (P731R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209729	NM_018937.5(PCDHB3):c.2124C>G (p.Phe708Leu)	PCDHB3, PCDHB@ (F708L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209728	NM_018937.5(PCDHB3):c.2104C>G (p.Leu702Val)	PCDHB3, PCDHB@ (L702V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209727	NM_018937.5(PCDHB3):c.1811A>C (p.Tyr604Ser)	PCDHB3, PCDHB@ (Y604S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209726	NM_018937.5(PCDHB3):c.1715G>A (p.Cys572Tyr)	PCDHB3, PCDHB@ (C572Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209725	NM_018937.5(PCDHB3):c.1158G>T (p.Glu386Asp)	PCDHB3, PCDHB@ (E386D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209724	NM_018937.5(PCDHB3):c.1093C>G (p.Leu365Val)	PCDHB3, PCDHB@ (L365V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2623204	NM_018937.5(PCDHB3):c.2288A>G (p.Glu763Gly)	PCDHB3, PCDHB@ (E763G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620166	NM_018937.5(PCDHB3):c.1726G>A (p.Val576Met)	PCDHB3, PCDHB@ (V576M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590374	NM_018937.5(PCDHB3):c.2134C>T (p.Arg712Trp)	PCDHB3, PCDHB@ (R712W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547681	NM_018937.5(PCDHB3):c.613C>A (p.Gln205Lys)	PCDHB3, PCDHB@ (Q205K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527596	NM_018937.5(PCDHB3):c.2164G>A (p.Val722Met)	PCDHB3, PCDHB@ (V722M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494130	NM_018937.5(PCDHB3):c.160C>G (p.Leu54Val)	PCDHB3, PCDHB@ (L54V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454514	NM_018937.5(PCDHB3):c.1577C>A (p.Ala526Glu)	PCDHB3, PCDHB@ (A526E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391640	NM_018937.5(PCDHB3):c.865C>A (p.Arg289Ser)	PCDHB3, PCDHB@ (R289S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387413	NM_018937.5(PCDHB3):c.2257G>T (p.Val753Leu)	PCDHB3, PCDHB@ (V753L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385059	NM_018937.5(PCDHB3):c.2228G>C (p.Gly743Ala)	PCDHB3, PCDHB@ (G743A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381165	NM_018937.5(PCDHB3):c.1643G>T (p.Arg548Leu)	PCDHB3, PCDHB@ (R548L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381122	NM_018937.5(PCDHB3):c.1315G>A (p.Val439Met)	PCDHB3, PCDHB@ (V439M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358287	NM_018937.5(PCDHB3):c.1411G>C (p.Gly471Arg)	PCDHB3, PCDHB@ (G471R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357293	NM_018937.5(PCDHB3):c.1708G>A (p.Ala570Thr)	PCDHB3, PCDHB@ (A570T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327863	NM_018937.5(PCDHB3):c.1382G>C (p.Arg461Pro)	PCDHB3, PCDHB@ (R461P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320962	NM_018937.5(PCDHB3):c.1648C>G (p.Leu550Val)	PCDHB3, PCDHB@ (L550V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310099	NM_018937.5(PCDHB3):c.2182C>T (p.Pro728Ser)	PCDHB3, PCDHB@ (P728S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309488	NM_018937.5(PCDHB3):c.2387G>T (p.Ser796Ile)	PCDHB3, PCDHB@ (S796I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306753	NM_018937.5(PCDHB3):c.1595G>T (p.Gly532Val)	PCDHB3, PCDHB@ (G532V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295247	NM_018937.5(PCDHB3):c.1532G>C (p.Gly511Ala)	PCDHB3, PCDHB@ (G511A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294681	NM_018937.5(PCDHB3):c.2068C>G (p.Leu690Val)	PCDHB3, PCDHB@ (L690V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282279	NM_018937.5(PCDHB3):c.73C>G (p.Leu25Val)	PCDHB3, PCDHB@ (L25V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276444	NM_018937.5(PCDHB3):c.1100T>A (p.Val367Asp)	PCDHB3, PCDHB@ (V367D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271133	NM_018937.5(PCDHB3):c.823G>A (p.Gly275Arg)	PCDHB3, PCDHB@ (G275R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263452	NM_018937.5(PCDHB3):c.877C>G (p.Gln293Glu)	PCDHB3, PCDHB@ (Q293E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257537	NM_018937.5(PCDHB3):c.376G>A (p.Val126Ile)	PCDHB3, PCDHB@ (V126I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252824	NM_018937.5(PCDHB3):c.1178T>C (p.Leu393Pro)	PCDHB3, PCDHB@ (L393P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238713	NM_018937.5(PCDHB3):c.843T>A (p.Phe281Leu)	PCDHB3, PCDHB@ (F281L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233955	NM_018937.5(PCDHB3):c.1883G>C (p.Arg628Thr)	PCDHB3, PCDHB@ (R628T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215736	NM_018937.5(PCDHB3):c.662C>T (p.Pro221Leu)	PCDHB3, PCDHB@ (P221L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212947	NM_018937.5(PCDHB3):c.1998C>G (p.Phe666Leu)	PCDHB3, PCDHB@ (F666L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Links from Gene

Items: 41