PCDHGA1[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 1329

<< First< Prev

Page of 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 149858	GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3	LOC129994992, LOC129994993 +1157 more	Copy number gain	See cases	GPathogenic
Select item 57483	GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3	ABLIM3, ACSL6 +1218 more	Copy number gain	See cases	GPathogenic
Select item 58388	GRCh38/hg38 5q31.2-32(chr5:138871137-145812309)x1	ANKHD1, ANKHD1-DT +377 more	Copy number loss	See cases	GPathogenic
Select item 147816	GRCh38/hg38 5q31.3(chr5:140963199-142322798)x1	ARAP3, DELE1 +123 more	Copy number loss	See cases	GUncertain significance
Select item 150685	GRCh38/hg38 5q31.3-32(chr5:141089988-149530678)x3	ABLIM3, ADRB2 +313 more	Copy number gain	See cases	GPathogenic
Select item 2267425	NM_018912.3(PCDHGA1):c.94C>A (p.His32Asn)	PCDHG@, PCDHGA1 (H32N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209835	NM_018912.3(PCDHGA1):c.181G>C (p.Asp61His)	PCDHG@, PCDHGA1 (D61H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304915	NM_018912.3(PCDHGA1):c.190G>A (p.Val64Ile)	PCDHG@, PCDHGA1 (V64I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304344	NM_018912.3(PCDHGA1):c.270A>G (p.Ile90Met)	PCDHG@, PCDHGA1 (I90M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209842	NM_018912.3(PCDHGA1):c.298A>G (p.Met100Val)	PCDHG@, PCDHGA1 (M100V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383775	NM_018912.3(PCDHGA1):c.328G>T (p.Val110Phe)	PCDHG@, PCDHGA1 (V110F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615898	NM_018912.3(PCDHGA1):c.335A>T (p.Asp112Val)	PCDHG@, PCDHGA1 (D112V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209843	NM_018912.3(PCDHGA1):c.337A>G (p.Lys113Glu)	PCDHG@, PCDHGA1 (K113E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542450	NM_018912.3(PCDHGA1):c.507C>G (p.Ser169Arg)	PCDHG@, PCDHGA1 (S169R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214304	NM_018912.3(PCDHGA1):c.512A>T (p.Gln171Leu)	PCDHG@, PCDHGA1 (Q171L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255451	NM_018912.3(PCDHGA1):c.571C>T (p.His191Tyr)	PCDHG@, PCDHGA1 (H191Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375407	NM_018912.3(PCDHGA1):c.574C>T (p.Pro192Ser)	PCDHG@, PCDHGA1 (P192S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559519	NM_018912.3(PCDHGA1):c.598T>G (p.Leu200Val)	PCDHG@, PCDHGA1 (L200V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298094	NM_018912.3(PCDHGA1):c.638C>T (p.Thr213Ile)	PCDHG@, PCDHGA1 (T213I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304917	NM_018912.3(PCDHGA1):c.664C>T (p.Arg222Cys)	PCDHG@, PCDHGA1 (R222C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359182	NM_018912.3(PCDHGA1):c.665G>A (p.Arg222His)	PCDHG@, PCDHGA1 (R222H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341083	NM_018912.3(PCDHGA1):c.688A>G (p.Ile230Val)	PCDHG@, PCDHGA1 (I230V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3209844	NM_018912.3(PCDHGA1):c.693G>C (p.Gln231His)	PCDHG@, PCDHGA1 (Q231H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521786	NM_018912.3(PCDHGA1):c.695T>C (p.Val232Ala)	PCDHG@, PCDHGA1 (V232A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209845	NM_018912.3(PCDHGA1):c.856C>G (p.His286Asp)	PCDHG@, PCDHGA1 (H286D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590180	NM_018912.3(PCDHGA1):c.857A>T (p.His286Leu)	PCDHG@, PCDHGA1 (H286L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405894	NM_018912.3(PCDHGA1):c.870A>C (p.Gln290His)	PCDHG@, PCDHGA1 (Q290H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209846	NM_018912.3(PCDHGA1):c.955G>C (p.Val319Leu)	PCDHG@, PCDHGA1 (V319L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480491	NM_018912.3(PCDHGA1):c.968A>G (p.Asp323Gly)	PCDHG@, PCDHGA1 (D323G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209847	NM_018912.3(PCDHGA1):c.974C>T (p.Ala325Val)	PCDHG@, PCDHGA1 (A325V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596254	NM_018912.3(PCDHGA1):c.991G>A (p.Val331Ile)	PCDHG@, PCDHGA1 (V331I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304914	NM_018912.3(PCDHGA1):c.1030G>T (p.Ala344Ser)	PCDHG@, PCDHGA1 (A344S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456333	NM_018912.3(PCDHGA1):c.1208G>A (p.Arg403His)	PCDHG@, PCDHGA1 (R403H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209828	NM_018912.3(PCDHGA1):c.1294C>G (p.Leu432Val)	PCDHG@, PCDHGA1 (L432V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606829	NM_018912.3(PCDHGA1):c.1421T>C (p.Val474Ala)	PCDHG@, PCDHGA1 (V474A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304916	NM_018912.3(PCDHGA1):c.1429C>T (p.His477Tyr)	PCDHG@, PCDHGA1 (H477Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370090	NM_018912.3(PCDHGA1):c.1465T>C (p.Tyr489His)	PCDHG@, PCDHGA1 (Y489H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209829	NM_018912.3(PCDHGA1):c.1471C>G (p.Leu491Val)	PCDHG@, PCDHGA1 (L491V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294741	NM_018912.3(PCDHGA1):c.1475T>C (p.Ile492Thr)	PCDHG@, PCDHGA1 (I492T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476595	NM_018912.3(PCDHGA1):c.1480G>A (p.Asp494Asn)	PCDHG@, PCDHGA1 (D494N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209830	NM_018912.3(PCDHGA1):c.1534G>T (p.Gly512Trp)	PCDHG@, PCDHGA1 (G512W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209831	NM_018912.3(PCDHGA1):c.1563C>G (p.Asp521Glu)	PCDHG@, PCDHGA1 (D521E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324088	NM_018912.3(PCDHGA1):c.1582A>G (p.Met528Val)	PCDHG@, PCDHGA1 (M528V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209832	NM_018912.3(PCDHGA1):c.1594G>A (p.Val532Met)	PCDHG@, PCDHGA1 (V532M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597158	NM_018912.3(PCDHGA1):c.1627A>G (p.Ser543Gly)	PCDHG@, PCDHGA1 (S543G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209833	NM_018912.3(PCDHGA1):c.1636G>C (p.Val546Leu)	PCDHG@, PCDHGA1 (V546L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478596	NM_018912.3(PCDHGA1):c.1637T>A (p.Val546Glu)	PCDHG@, PCDHGA1 (V546E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209834	NM_018912.3(PCDHGA1):c.1640C>A (p.Ser547Tyr)	PCDHG@, PCDHGA1 (S547Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511889	NM_018912.3(PCDHGA1):c.1706C>A (p.Thr569Lys)	PCDHG@, PCDHGA1 (T569K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315666	NM_018912.3(PCDHGA1):c.1718C>G (p.Thr573Ser)	PCDHG@, PCDHGA1 (T573S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212960	NM_018912.3(PCDHGA1):c.1739T>G (p.Leu580Arg)	PCDHG@, PCDHGA1 (L580R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3209836	NM_018912.3(PCDHGA1):c.2008G>C (p.Asp670His)	PCDHG@, PCDHGA1 (D670H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207473	NM_018912.3(PCDHGA1):c.2141A>T (p.His714Leu)	PCDHG@, PCDHGA1 (H714L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3209837	NM_018912.3(PCDHGA1):c.2200A>G (p.Ser734Gly)	PCDHG@, PCDHGA1 (S734G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3209838	NM_018912.3(PCDHGA1):c.2209G>T (p.Gly737Cys)	PCDHG@, PCDHGA1 (G737C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507554	NM_018912.3(PCDHGA1):c.2210G>T (p.Gly737Val)	PCDHG@, PCDHGA1 (G737V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543029	NM_018912.3(PCDHGA1):c.2227G>A (p.Val743Met)	PCDHG@, PCDHGA1 (V743M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209839	NM_018912.3(PCDHGA1):c.2257T>A (p.Tyr753Asn)	PCDHG@, PCDHGA1 (Y753N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209840	NM_018912.3(PCDHGA1):c.2258A>G (p.Tyr753Cys)	PCDHG@, PCDHGA1 (Y753C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211429	NM_018912.3(PCDHGA1):c.2263C>T (p.His755Tyr)	PCDHG@, PCDHGA1 (H755Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393973	NM_018912.3(PCDHGA1):c.2317C>T (p.Pro773Ser)	PCDHG@, PCDHGA1 (P773S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209891	NM_018915.4(PCDHGA2):c.13C>A (p.Gln5Lys)	PCDHG@, PCDHGA1 +1 more (Q5K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2565089	NM_018915.4(PCDHGA2):c.16A>C (p.Lys6Gln)	PCDHG@, PCDHGA1 +1 more (K6Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2409638	NM_018915.4(PCDHGA2):c.26A>G (p.His9Arg)	PCDHG@, PCDHGA1 +1 more (H9R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2341899	NM_018915.4(PCDHGA2):c.40G>A (p.Val14Ile)	PCDHG@, PCDHGA1 +1 more (V14I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209903	NM_018915.4(PCDHGA2):c.41T>C (p.Val14Ala)	PCDHG@, PCDHGA1 +1 more (V14A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2320681	NM_018915.4(PCDHGA2):c.203C>A (p.Ser68Tyr)	PCDHG@, PCDHGA1 +1 more (S68Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304934	NM_018915.4(PCDHGA2):c.359A>G (p.Glu120Gly)	PCDHG@, PCDHGA1 +1 more (E120G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304938	NM_018915.4(PCDHGA2):c.394C>A (p.Arg132Ser)	PCDHG@, PCDHGA1 +1 more (R132S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2549396	NM_018915.4(PCDHGA2):c.425T>C (p.Ile142Thr)	PCDHG@, PCDHGA1 +1 more (I142T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2556505	NM_018915.4(PCDHGA2):c.508T>C (p.Tyr170His)	PCDHG@, PCDHGA1 +1 more (Y170H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2272159	NM_018915.4(PCDHGA2):c.511G>C (p.Ala171Pro)	PCDHG@, PCDHGA1 +1 more (A171P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2361603	NM_018915.4(PCDHGA2):c.631G>A (p.Val211Ile)	PCDHG@, PCDHGA1 +1 more (V211I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2276519	NM_018915.4(PCDHGA2):c.653G>T (p.Gly218Val)	PCDHG@, PCDHGA1 +1 more (G218V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2329123	NM_018915.4(PCDHGA2):c.684C>G (p.Ile228Met)	PCDHG@, PCDHGA1 +1 more (I228M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2291175	NM_018915.4(PCDHGA2):c.793A>G (p.Thr265Ala)	PCDHG@, PCDHGA1 +1 more (T265A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2306123	NM_018915.4(PCDHGA2):c.890C>A (p.Thr297Lys)	PCDHG@, PCDHGA1 +1 more (T297K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2399555	NM_018915.4(PCDHGA2):c.1003G>A (p.Val335Ile)	PCDHG@, PCDHGA1 +1 more (V335I)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2471549	NM_018915.4(PCDHGA2):c.1024G>A (p.Asp342Asn)	PCDHG@, PCDHGA1 +1 more (D342N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209888	NM_018915.4(PCDHGA2):c.1060A>G (p.Ser354Gly)	PCDHG@, PCDHGA1 +1 more (S354G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2618289	NM_018915.4(PCDHGA2):c.1138G>T (p.Ala380Ser)	PCDHG@, PCDHGA1 +1 more (A380S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2606179	NM_018915.4(PCDHGA2):c.1138G>A (p.Ala380Thr)	PCDHG@, PCDHGA1 +1 more (A380T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2210841	NM_018915.4(PCDHGA2):c.1156C>T (p.Leu386Phe)	PCDHG@, PCDHGA1 +1 more (L386F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209889	NM_018915.4(PCDHGA2):c.1216A>C (p.Thr406Pro)	PCDHGA2, PCDHG@ +1 more (T406P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2474766	NM_018915.4(PCDHGA2):c.1228C>T (p.Leu410Phe)	PCDHG@, PCDHGA1 +1 more (L410F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209890	NM_018915.4(PCDHGA2):c.1346C>T (p.Ala449Val)	PCDHG@, PCDHGA1 +1 more (A449V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2234814	NM_018915.4(PCDHGA2):c.1360C>T (p.Arg454Cys)	PCDHG@, PCDHGA1 +1 more (R454C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304935	NM_018915.4(PCDHGA2):c.1381A>G (p.Ile461Val)	PCDHG@, PCDHGA1 +1 more (I461V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2591437	NM_018915.4(PCDHGA2):c.1430A>G (p.His477Arg)	PCDHG@, PCDHGA1 +1 more (H477R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304940	NM_018915.4(PCDHGA2):c.1444A>G (p.Asn482Asp)	PCDHG@, PCDHGA1 +1 more (N482D)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2546384	NM_018915.4(PCDHGA2):c.1505C>G (p.Ser502Cys)	PCDHG@, PCDHGA1 +1 more (S502C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2593045	NM_018915.4(PCDHGA2):c.1511A>T (p.Tyr504Phe)	PCDHG@, PCDHGA1 +1 more (Y504F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2317016	NM_018915.4(PCDHGA2):c.1552C>T (p.Arg518Cys)	PCDHG@, PCDHGA1 +1 more (R518C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2350260	NM_018915.4(PCDHGA2):c.1572G>T (p.Gln524His)	PCDHGA2, PCDHG@ +1 more (Q524H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304939	NM_018915.4(PCDHGA2):c.1591T>C (p.Trp531Arg)	PCDHG@, PCDHGA1 +1 more (W531R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209893	NM_018915.4(PCDHGA2):c.1628G>A (p.Ser543Asn)	PCDHG@, PCDHGA1 +1 more (S543N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2483463	NM_018915.4(PCDHGA2):c.1636G>A (p.Val546Ile)	PCDHG@, PCDHGA1 +1 more (V546I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2517652	NM_018915.4(PCDHGA2):c.1646G>A (p.Ser549Asn)	PCDHG@, PCDHGA1 +1 more (S549N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209894	NM_018915.4(PCDHGA2):c.1654G>C (p.Val552Leu)	PCDHG@, PCDHGA1 +1 more (V552L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

<< First< Prev

Page of 14