GET-Evidence: Search

VariantImpactInheritance patternSummaryGenomes
CHD7 H55Rinsufficiently evaluated pathogenicunknown
CHD7 S103Tinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_A04 from PGP sample 13272228
CHD7 P300Linsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_C07 from PGP sample 74521372
CHD7 M396Iinsufficiently evaluated not reviewed, f=0.001unknown CGI sample GS00253-DNA_D01_200_37
CHD7 K686KAKinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_B03 from PGP sample 14427241
CHD7 S698Shiftinsufficiently evaluated not reviewed, f=0.008unknown var-GS12004-1100-36-ASM
CHD7 K812Ninsufficiently evaluated not reviewed, f=0.001unknown
CHD7 S834Finsufficiently evaluated pathogenicunknown

(5 web hits)

CHD7 I1028Vinsufficiently evaluated pathogenicunknown

Arose de novo in patient with clinical dx of CHARGE and parents tested. Did not evaluate for non-paternity or non-maternity in the family, however.

CHD7 L1257Rinsufficiently evaluated pathogenicunknown
CHD7 E1271Xinsufficiently evaluated pathogenicunknown

(3 web hits)

CHD7 Y1806Xinsufficiently evaluated pathogenicunknown
CHD7 A1950Tinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_G03 from PGP sample 92527586
CHD7 K2079Tinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_G02 from PGP sample 67180598
CHD7 G2108Rinsufficiently evaluated pathogenicunknown
CHD7 R2319Sinsufficiently evaluated pathogenicunknown

(3 web hits)

CHD7 G2330Ainsufficiently evaluated not reviewed, f=0.008unknown var-GS18505-1100-36-ASM
CHD7 W2332Xinsufficiently evaluated pathogenicunknown

(3 web hits)

CHD7 I2725Vinsufficiently evaluated not reviewedunknown
CHD7 A2794Shiftinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_A04 from PGP sample 08188426
CHD7 L2984Finsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_A07 from PGP sample 96240009
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Total results: 21

Gene search

"GENE" or "GENE A123C":

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