CD8A[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 198

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 145403	GRCh38/hg38 2p12-11.2(chr2:77025216-90282666)x3	ATOH8, C2orf68 +302 more	Copy number gain	See cases	GPathogenic
Select item 153632	GRCh38/hg38 2p11.2(chr2:85014686-88826619)x1	ATOH8, C2orf68 +179 more	Copy number loss	See cases	GPathogenic
Select item 60182	GRCh38/hg38 2p11.2(chr2:86395172-86859284)x1	CD8A, CD8B +28 more	Copy number loss	See cases	GPathogenic
Select item 1593158	NM_001768.7(CD8A):c.702C>T (p.Tyr234=)	CD8A	Single nucleotide variant (synonymous variant +1 more)	Susceptibility to respiratory infections associated with CD8alpha chain mutation	GLikely benign
Select item 626081	NM_001768.7(CD8A):c.702del (p.Arg233_Tyr234insTer)	CD8A	Deletion (nonsense +1 more)	Susceptibility to respiratory infections associated with CD8alpha chain mutation	GUncertain significance
Select item 958545	NM_001768.7(CD8A):c.698G>C (p.Arg233Thr)	CD8A (R196T +1 more)	Single nucleotide variant (missense variant +1 more)	Susceptibility to respiratory infections associated with CD8alpha chain mutation	GUncertain significance
Select item 2909905	NM_001768.7(CD8A):c.696G>A (p.Ala232=)	CD8A	Single nucleotide variant (synonymous variant +1 more)	Susceptibility to respiratory infections associated with CD8alpha chain mutation	GLikely benign
Select item 2084178	NM_001768.7(CD8A):c.692C>T (p.Ser231Leu)	CD8A (S231L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 952792	NM_001768.7(CD8A):c.687C>A (p.Ser229Arg)	CD8A (S229R +1 more)	Single nucleotide variant (missense variant +1 more)	Susceptibility to respiratory infections associated with CD8alpha chain mutation +1 more	GUncertain significance
Select item 2754257	NM_001768.7(CD8A):c.672G>C (p.Ser224=)	CD8A	Single nucleotide variant (synonymous variant +1 more)	Susceptibility to respiratory infections associated with CD8alpha chain mutation	GLikely benign
Select item 2791517	NM_001768.7(CD8A):c.657-11CT[2]	CD8A	Microsatellite (intron variant)	Susceptibility to respiratory infections associated with CD8alpha chain mutation	GLikely benign
Select item 748234	NM_001768.7(CD8A):c.657-8T>C	CD8A	Single nucleotide variant (intron variant)	Susceptibility to respiratory infections associated with CD8alpha chain mutation	GLikely benign
Select item 1934262	NM_001768.7(CD8A):c.657-17G>A	CD8A	Single nucleotide variant (intron variant)	Susceptibility to respiratory infections associated with CD8alpha chain mutation	GLikely benign
Select item 1168126	NM_001768.7(CD8A):c.656+18_656+19dup	CD8A, LOC106699567	Duplication (intron variant)	Susceptibility to respiratory infections associated with CD8alpha chain mutation	GBenign
Select item 1588720	NM_001768.7(CD8A):c.656+14G>A	CD8A, LOC106699567	Single nucleotide variant (intron variant)	Susceptibility to respiratory infections associated with CD8alpha chain mutation	GLikely benign
Select item 941739	NM_001768.7(CD8A):c.656G>A (p.Arg219Gln)	CD8A, LOC106699567 (R219Q +1 more)	Single nucleotide variant (missense variant +1 more)	Susceptibility to respiratory infections associated with CD8alpha chain mutation	GUncertain significance
Select item 936219	NM_001768.7(CD8A):c.656G>T (p.Arg219Leu)	CD8A, LOC106699567 (R219L +1 more)	Single nucleotide variant (missense variant +1 more)	Susceptibility to respiratory infections associated with CD8alpha chain mutation	GUncertain significance
Select item 1942997	NM_001768.7(CD8A):c.655C>T (p.Arg219Trp)	CD8A, LOC106699567 (R182W +1 more)	Single nucleotide variant (missense variant +1 more)	Susceptibility to respiratory infections associated with CD8alpha chain mutation	GUncertain significance
Select item 969224	NM_001768.7(CD8A):c.655C>G (p.Arg219Gly)	CD8A, LOC106699567 (R182G +1 more)	Single nucleotide variant (missense variant +1 more)	Susceptibility to respiratory infections associated with CD8alpha chain mutation	GUncertain significance
Select item 2003855	NM_001768.7(CD8A):c.644G>A (p.Cys215Tyr)	CD8A, LOC106699567 (C178Y +1 more)	Single nucleotide variant (missense variant +1 more)	Susceptibility to respiratory infections associated with CD8alpha chain mutation	GUncertain significance
Select item 1405225	NM_001768.7(CD8A):c.626-2A>T	CD8A, LOC106699567	Single nucleotide variant (splice acceptor variant)	Susceptibility to respiratory infections associated with CD8alpha chain mutation	GUncertain significance
Select item 1110906	NM_001768.7(CD8A):c.626-5T>C	CD8A, LOC106699567	Single nucleotide variant (intron variant)	Susceptibility to respiratory infections associated with CD8alpha chain mutation	GLikely benign
Select item 1133107	NM_001768.7(CD8A):c.626-10C>T	CD8A, LOC106699567	Single nucleotide variant (intron variant)	Susceptibility to respiratory infections associated with CD8alpha chain mutation	GLikely benign
Select item 1592310	NM_001768.7(CD8A):c.625+12G>A	CD8A	Single nucleotide variant (intron variant)	Susceptibility to respiratory infections associated with CD8alpha chain mutation	GLikely benign
Select item 3008737	NM_001768.7(CD8A):c.625+10G>A	CD8A	Single nucleotide variant (intron variant)	Susceptibility to respiratory infections associated with CD8alpha chain mutation	GLikely benign
Select item 625911	NM_001768.7(CD8A):c.623A>T (p.His208Leu)	CD8A (H208L)	Single nucleotide variant (missense variant +2 more)	Susceptibility to respiratory infections associated with CD8alpha chain mutation	GUncertain significance
Select item 1016334	NM_001768.7(CD8A):c.610C>T (p.Leu204Phe)	CD8A (L204F)	Single nucleotide variant (missense variant +2 more)	Susceptibility to respiratory infections associated with CD8alpha chain mutation	GUncertain significance
Select item 1439366	NM_001768.7(CD8A):c.595T>C (p.Ser199Pro)	CD8A (S199P)	Single nucleotide variant (missense variant +2 more)	Susceptibility to respiratory infections associated with CD8alpha chain mutation	GUncertain significance
Select item 967507	NM_001768.7(CD8A):c.591_593del (p.Leu198del)	CD8A (L198del)	Deletion (inframe_deletion +2 more)	Susceptibility to respiratory infections associated with CD8alpha chain mutation	GUncertain significance
Select item 3012503	NM_001768.7(CD8A):c.592C>T (p.Leu198=)	CD8A	Single nucleotide variant (synonymous variant +2 more)	Susceptibility to respiratory infections associated with CD8alpha chain mutation	GLikely benign
Select item 3001533	NM_001768.7(CD8A):c.591C>T (p.Leu197=)	CD8A	Single nucleotide variant (synonymous variant +2 more)	Susceptibility to respiratory infections associated with CD8alpha chain mutation	GLikely benign
Select item 2917859	NM_001768.7(CD8A):c.570C>T (p.Ala190=)	CD8A	Single nucleotide variant (synonymous variant +2 more)	Susceptibility to respiratory infections associated with CD8alpha chain mutation	GLikely benign
Select item 645068	NM_001768.7(CD8A):c.569C>A (p.Ala190Asp)	CD8A (A190D)	Single nucleotide variant (missense variant +2 more)	Susceptibility to respiratory infections associated with CD8alpha chain mutation	GUncertain significance
Select item 842472	NM_001768.7(CD8A):c.568G>A (p.Ala190Thr)	CD8A (A190T)	Single nucleotide variant (missense variant +2 more)	Susceptibility to respiratory infections associated with CD8alpha chain mutation	GUncertain significance
Select item 402521	NM_001768.7(CD8A):c.565T>C (p.Leu189=)	CD8A	Single nucleotide variant (synonymous variant +2 more)	not specified +2 more	GBenign
Select item 1471177	NM_001768.7(CD8A):c.562C>T (p.Pro188Ser)	CD8A (P188S)	Single nucleotide variant (missense variant +2 more)	Susceptibility to respiratory infections associated with CD8alpha chain mutation	GUncertain significance
Select item 956296	NM_001768.7(CD8A):c.560C>A (p.Ala187Glu)	CD8A (A187E)	Single nucleotide variant (missense variant +2 more)	Susceptibility to respiratory infections associated with CD8alpha chain mutation	GUncertain significance
Select item 841531	NM_001768.7(CD8A):c.547A>G (p.Ile183Val)	CD8A (I183V)	Single nucleotide variant (missense variant +2 more)	Susceptibility to respiratory infections associated with CD8alpha chain mutation	GUncertain significance
Select item 2187496	NM_001768.7(CD8A):c.541T>C (p.Cys181Arg)	CD8A (C181R)	Single nucleotide variant (missense variant +2 more)	Susceptibility to respiratory infections associated with CD8alpha chain mutation	GUncertain significance
Select item 2796348	NM_001768.7(CD8A):c.528G>A (p.Gly176=)	CD8A	Single nucleotide variant (synonymous variant +2 more)	Susceptibility to respiratory infections associated with CD8alpha chain mutation	GLikely benign
Select item 2166394	NM_001768.7(CD8A):c.527G>C (p.Gly176Ala)	CD8A (G176A)	Single nucleotide variant (missense variant +2 more)	Susceptibility to respiratory infections associated with CD8alpha chain mutation	GUncertain significance
Select item 1110625	NM_001768.7(CD8A):c.525G>A (p.Arg175=)	CD8A	Single nucleotide variant (synonymous variant +2 more)	Susceptibility to respiratory infections associated with CD8alpha chain mutation	GLikely benign
Select item 836144	NM_001768.7(CD8A):c.524G>C (p.Arg175Thr)	CD8A (R175T)	Single nucleotide variant (missense variant +2 more)	Susceptibility to respiratory infections associated with CD8alpha chain mutation	GUncertain significance
Select item 1135934	NM_001768.7(CD8A):c.522G>C (p.Thr174=)	CD8A	Single nucleotide variant (synonymous variant +2 more)	Susceptibility to respiratory infections associated with CD8alpha chain mutation	GLikely benign
Select item 2792472	NM_001768.7(CD8A):c.515-5_515-3del	CD8A	Microsatellite (intron variant)	Susceptibility to respiratory infections associated with CD8alpha chain mutation	GLikely benign
Select item 2086608	NM_001768.7(CD8A):c.515-6C>G	CD8A	Single nucleotide variant (intron variant)	Susceptibility to respiratory infections associated with CD8alpha chain mutation	GLikely benign
Select item 464449	NM_001768.7(CD8A):c.515-6C>T	CD8A	Single nucleotide variant (intron variant)	Susceptibility to respiratory infections associated with CD8alpha chain mutation	GBenign
Select item 2984906	NM_001768.7(CD8A):c.515-9del	CD8A	Deletion (intron variant)	Susceptibility to respiratory infections associated with CD8alpha chain mutation	GLikely benign
Select item 1648790	NM_001768.7(CD8A):c.515-14T>C	CD8A	Single nucleotide variant (intron variant)	Susceptibility to respiratory infections associated with CD8alpha chain mutation	GLikely benign
Select item 2188071	NM_001768.7(CD8A):c.515-17G>T	CD8A	Single nucleotide variant (intron variant)	Susceptibility to respiratory infections associated with CD8alpha chain mutation	GLikely benign
Select item 1567824	NM_001768.7(CD8A):c.514+20G>C	CD8A	Single nucleotide variant (intron variant)	Susceptibility to respiratory infections associated with CD8alpha chain mutation	GLikely benign
Select item 1597725	NM_001768.7(CD8A):c.514+17C>T	CD8A	Single nucleotide variant (intron variant)	Susceptibility to respiratory infections associated with CD8alpha chain mutation	GLikely benign
Select item 1567555	NM_001768.7(CD8A):c.514+16G>A	CD8A	Single nucleotide variant (intron variant)	Susceptibility to respiratory infections associated with CD8alpha chain mutation	GLikely benign
Select item 1586602	NM_001768.7(CD8A):c.514+12G>A	CD8A	Single nucleotide variant (intron variant)	Susceptibility to respiratory infections associated with CD8alpha chain mutation	GLikely benign
Select item 1159502	NM_001768.7(CD8A):c.514+10G>T	CD8A	Single nucleotide variant (intron variant)	Susceptibility to respiratory infections associated with CD8alpha chain mutation	GLikely benign
Select item 2797944	NM_001768.7(CD8A):c.514+9T>G	CD8A	Single nucleotide variant (intron variant)	Susceptibility to respiratory infections associated with CD8alpha chain mutation	GLikely benign
Select item 757741	NM_001768.7(CD8A):c.514+7C>G	CD8A	Single nucleotide variant (intron variant)	Susceptibility to respiratory infections associated with CD8alpha chain mutation	GLikely benign
Select item 954586	NM_001768.7(CD8A):c.514+6G>T	CD8A	Single nucleotide variant (intron variant)	Susceptibility to respiratory infections associated with CD8alpha chain mutation	GUncertain significance
Select item 2834635	NM_001768.7(CD8A):c.514G>A (p.Val172Met)	CD8A (G172R +1 more)	Single nucleotide variant (missense variant +1 more)	Susceptibility to respiratory infections associated with CD8alpha chain mutation	GUncertain significance
Select item 1016220	NM_001768.7(CD8A):c.511G>A (p.Ala171Thr)	CD8A (A171T)	Single nucleotide variant (missense variant +1 more)	Susceptibility to respiratory infections associated with CD8alpha chain mutation	GUncertain significance
Select item 1009961	NM_001768.7(CD8A):c.509dup (p.Ala171fs)	CD8A (A171fs)	Duplication (frameshift variant +1 more)	Susceptibility to respiratory infections associated with CD8alpha chain mutation	GUncertain significance
Select item 1047213	NM_001768.7(CD8A):c.509G>T (p.Gly170Val)	CD8A (G170V)	Single nucleotide variant (missense variant +1 more)	Susceptibility to respiratory infections associated with CD8alpha chain mutation	GUncertain significance
Select item 1126691	NM_001768.7(CD8A):c.504G>T (p.Ala168=)	CD8A	Single nucleotide variant (synonymous variant +1 more)	Susceptibility to respiratory infections associated with CD8alpha chain mutation	GLikely benign
Select item 533087	NM_001768.7(CD8A):c.504G>A (p.Ala168=)	CD8A	Single nucleotide variant (synonymous variant +1 more)	Susceptibility to respiratory infections associated with CD8alpha chain mutation	GLikely benign
Select item 2481647	NM_001768.7(CD8A):c.503C>G (p.Ala168Gly)	CD8A (A168G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2766046	NM_001768.7(CD8A):c.498A>C (p.Pro166=)	CD8A	Single nucleotide variant (synonymous variant +1 more)	Susceptibility to respiratory infections associated with CD8alpha chain mutation	GLikely benign
Select item 1381319	NM_001768.7(CD8A):c.494G>T (p.Arg165Leu)	CD8A (R165L)	Single nucleotide variant (missense variant +1 more)	Susceptibility to respiratory infections associated with CD8alpha chain mutation	GUncertain significance
Select item 648401	NM_001768.7(CD8A):c.494G>C (p.Arg165Pro)	CD8A (R165P)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 964013	NM_001768.7(CD8A):c.486G>A (p.Glu162=)	CD8A	Single nucleotide variant (synonymous variant +1 more)	Susceptibility to respiratory infections associated with CD8alpha chain mutation	GLikely benign
Select item 1505106	NM_001768.7(CD8A):c.478C>A (p.Arg160Ser)	CD8A (R160S)	Single nucleotide variant (missense variant +1 more)	Susceptibility to respiratory infections associated with CD8alpha chain mutation	GUncertain significance
Select item 2765240	NM_001768.7(CD8A):c.471G>T (p.Leu157=)	CD8A	Single nucleotide variant (synonymous variant +1 more)	Susceptibility to respiratory infections associated with CD8alpha chain mutation	GLikely benign
Select item 1474554	NM_001768.7(CD8A):c.466C>A (p.Pro156Thr)	CD8A (P156T)	Single nucleotide variant (missense variant +1 more)	Susceptibility to respiratory infections associated with CD8alpha chain mutation	GUncertain significance
Select item 946420	NM_001768.7(CD8A):c.456C>A (p.Ile152=)	CD8A	Single nucleotide variant (synonymous variant +1 more)	Susceptibility to respiratory infections associated with CD8alpha chain mutation	GUncertain significance
Select item 1522852	NM_001768.7(CD8A):c.449C>T (p.Pro150Leu)	CD8A (P150L)	Single nucleotide variant (missense variant +1 more)	Susceptibility to respiratory infections associated with CD8alpha chain mutation	GUncertain significance
Select item 464448	NM_001768.7(CD8A):c.447G>A (p.Ala149=)	CD8A	Single nucleotide variant (synonymous variant +1 more)	Susceptibility to respiratory infections associated with CD8alpha chain mutation +1 more	GBenign
Select item 1433742	NM_001768.7(CD8A):c.446C>A (p.Ala149Glu)	CD8A (A149E)	Single nucleotide variant (missense variant +1 more)	Susceptibility to respiratory infections associated with CD8alpha chain mutation	GUncertain significance
Select item 1605783	NM_001768.7(CD8A):c.444G>A (p.Pro148=)	CD8A	Single nucleotide variant (synonymous variant +1 more)	Susceptibility to respiratory infections associated with CD8alpha chain mutation	GLikely benign
Select item 1127218	NM_001768.7(CD8A):c.430C>A (p.Arg144=)	CD8A	Single nucleotide variant (synonymous variant +1 more)	Susceptibility to respiratory infections associated with CD8alpha chain mutation	GLikely benign
Select item 1481587	NM_001768.7(CD8A):c.428C>G (p.Pro143Arg)	CD8A (P143R)	Single nucleotide variant (missense variant +1 more)	Susceptibility to respiratory infections associated with CD8alpha chain mutation	GUncertain significance
Select item 2896282	NM_001768.7(CD8A):c.426G>A (p.Ala142=)	CD8A	Single nucleotide variant (synonymous variant +1 more)	Susceptibility to respiratory infections associated with CD8alpha chain mutation	GLikely benign
Select item 765701	NM_001768.7(CD8A):c.417G>C (p.Thr139=)	CD8A	Single nucleotide variant (synonymous variant +1 more)	Susceptibility to respiratory infections associated with CD8alpha chain mutation	GLikely benign
Select item 2048116	NM_001768.7(CD8A):c.413C>T (p.Thr138Ile)	CD8A (T138I)	Single nucleotide variant (missense variant +1 more)	Susceptibility to respiratory infections associated with CD8alpha chain mutation	GUncertain significance
Select item 652854	NM_001768.7(CD8A):c.410C>T (p.Pro137Leu)	CD8A (P137L)	Single nucleotide variant (missense variant +1 more)	Susceptibility to respiratory infections associated with CD8alpha chain mutation	GUncertain significance
Select item 533086	NM_001768.7(CD8A):c.405G>A (p.Ala135=)	CD8A	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 2747463	NM_001768.7(CD8A):c.404-9C>T	CD8A	Single nucleotide variant (intron variant)	Susceptibility to respiratory infections associated with CD8alpha chain mutation	GLikely benign
Select item 2059156	NM_001768.7(CD8A):c.404-10G>T	CD8A	Single nucleotide variant (intron variant)	Susceptibility to respiratory infections associated with CD8alpha chain mutation	GLikely benign
Select item 464447	NM_001768.7(CD8A):c.404-10G>C	CD8A	Single nucleotide variant (intron variant)	Susceptibility to respiratory infections associated with CD8alpha chain mutation	GLikely benign
Select item 1599737	NM_001768.7(CD8A):c.404-18G>T	CD8A	Single nucleotide variant (intron variant)	Susceptibility to respiratory infections associated with CD8alpha chain mutation	GBenign
Select item 2980784	NM_001768.7(CD8A):c.404-19C>T	CD8A	Single nucleotide variant (intron variant)	Susceptibility to respiratory infections associated with CD8alpha chain mutation	GLikely benign
Select item 2092153	NM_001768.7(CD8A):c.403+19G>A	CD8A	Single nucleotide variant (intron variant)	Susceptibility to respiratory infections associated with CD8alpha chain mutation	GUncertain significance
Select item 1613449	NM_001768.7(CD8A):c.403+19G>C	CD8A	Single nucleotide variant (intron variant)	Susceptibility to respiratory infections associated with CD8alpha chain mutation	GLikely benign
Select item 2096179	NM_001768.7(CD8A):c.403+15T>A	CD8A	Single nucleotide variant (intron variant)	Susceptibility to respiratory infections associated with CD8alpha chain mutation	GLikely benign
Select item 1165190	NM_001768.7(CD8A):c.403+11C>T	CD8A	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 2747076	NM_001768.7(CD8A):c.403+10C>T	CD8A	Single nucleotide variant (intron variant)	Susceptibility to respiratory infections associated with CD8alpha chain mutation	GLikely benign
Select item 1994411	NM_001768.7(CD8A):c.403+5_403+6delinsTT	CD8A	Indel (intron variant)	Susceptibility to respiratory infections associated with CD8alpha chain mutation	GUncertain significance
Select item 639504	NM_001768.7(CD8A):c.403+4C>G	CD8A	Single nucleotide variant (intron variant)	Susceptibility to respiratory infections associated with CD8alpha chain mutation +1 more	GUncertain significance
Select item 3002105	NM_001768.7(CD8A):c.397C>T (p.Leu133=)	CD8A	Single nucleotide variant (synonymous variant +1 more)	Susceptibility to respiratory infections associated with CD8alpha chain mutation	GLikely benign
Select item 2123412	NM_001768.7(CD8A):c.396C>A (p.Phe132Leu)	CD8A (F132L)	Single nucleotide variant (missense variant +1 more)	Susceptibility to respiratory infections associated with CD8alpha chain mutation	GUncertain significance
Select item 859339	NM_001768.7(CD8A):c.394T>G (p.Phe132Val)	CD8A (F132V)	Single nucleotide variant (missense variant +1 more)	Susceptibility to respiratory infections associated with CD8alpha chain mutation	GUncertain significance

<< First< Prev

Page of 2