ClinVar for MedGen (Select 1644017) - ClinVar

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Items: 78

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2435349	NM_016277.5(RAB23):c.-66+5021dup	RAB23	Duplication (intron variant)	RAB23-related Carpenter syndrome	GUncertain significance
Select item 1210462	NM_016277.5(RAB23):c.559del (p.Ser187fs)	RAB23 (S187fs)	Deletion (frameshift variant +1 more)	RAB23-related Carpenter syndrome	GLikely pathogenic
Select item 1210114	NM_016277.5(RAB23):c.398+1G>A	RAB23	Single nucleotide variant (splice donor variant)	RAB23-related Carpenter syndrome	GPathogenic
Select item 1098967	NM_016277.5(RAB23):c.551C>T (p.Thr184Met)	RAB23 (T184M)	Single nucleotide variant (missense variant +1 more)	RAB23-related condition +1 more	GConflicting classifications of pathogenicity
Select item 1089379	NM_016277.5(RAB23):c.51T>C (p.Asn17=)	RAB23	Single nucleotide variant (synonymous variant +1 more)	RAB23-related condition +1 more	GLikely benign
Select item 1055018	NM_016277.5(RAB23):c.712T>G (p.Ter238Glu)	RAB23	Single nucleotide variant (stop lost +1 more)	Carpenter syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1050024	NM_016277.5(RAB23):c.346A>G (p.Thr116Ala)	RAB23 (T116A)	Single nucleotide variant (missense variant)	RAB23-related condition +3 more	GUncertain significance
Select item 989997	NM_016277.5(RAB23):c.222T>C (p.Ile74=)	RAB23	Single nucleotide variant (synonymous variant)	Carpenter syndrome	GLikely benign
Select item 989996	NM_016277.5(RAB23):c.481+10C>T	RAB23	Single nucleotide variant (intron variant)	RAB23-related condition +1 more	GLikely benign
Select item 934995	NM_016277.5(RAB23):c.90C>G (p.Cys30Trp)	RAB23 (C30W)	Single nucleotide variant (missense variant +1 more)	Carpenter syndrome +1 more	GUncertain significance
Select item 911609	NM_016277.5(RAB23):c.389G>C (p.Cys130Ser)	RAB23 (C130S)	Single nucleotide variant (missense variant)	RAB23-related Carpenter syndrome	GUncertain significance
Select item 911608	NM_016277.5(RAB23):c.399-14A>T	RAB23	Single nucleotide variant (intron variant)	RAB23-related Carpenter syndrome	GUncertain significance
Select item 911548	NM_004282.4(BAG2):c.*4777T>C	BAG2, RAB23	Single nucleotide variant (3 prime UTR variant +1 more)	RAB23-related Carpenter syndrome	GUncertain significance
Select item 911547	NM_004282.4(BAG2):c.*4737A>C	BAG2, RAB23	Single nucleotide variant (3 prime UTR variant +1 more)	RAB23-related Carpenter syndrome	GUncertain significance
Select item 911546	NM_004282.4(BAG2):c.*4735A>C	BAG2, RAB23	Single nucleotide variant (3 prime UTR variant +1 more)	RAB23-related Carpenter syndrome	GUncertain significance
Select item 911545	NM_004282.4(BAG2):c.*4565A>G	BAG2, RAB23	Single nucleotide variant (3 prime UTR variant +1 more)	RAB23-related Carpenter syndrome	GLikely benign
Select item 910398	NM_016277.5(RAB23):c.664C>G (p.Gln222Glu)	RAB23 (Q222E)	Single nucleotide variant (missense variant +1 more)	RAB23-related Carpenter syndrome	GUncertain significance
Select item 910397	NM_016277.5(RAB23):c.670A>T (p.Thr224Ser)	RAB23 (T224S)	Single nucleotide variant (missense variant +1 more)	RAB23-related condition +2 more	GUncertain significance
Select item 910396	NM_016277.5(RAB23):c.*81G>T	RAB23	Single nucleotide variant (3 prime UTR variant +1 more)	RAB23-related Carpenter syndrome	GUncertain significance
Select item 910395	NM_016277.5(RAB23):c.*117A>G	RAB23	Single nucleotide variant (3 prime UTR variant +1 more)	RAB23-related Carpenter syndrome	GUncertain significance
Select item 910337	NM_004282.4(BAG2):c.*4531G>A	BAG2, RAB23	Single nucleotide variant (3 prime UTR variant +1 more)	RAB23-related Carpenter syndrome	GBenign
Select item 910336	NM_004282.4(BAG2):c.*4454T>C	BAG2, RAB23	Single nucleotide variant (3 prime UTR variant +1 more)	RAB23-related Carpenter syndrome	GUncertain significance
Select item 910335	NM_004282.4(BAG2):c.*4263C>T	BAG2, RAB23	Single nucleotide variant (3 prime UTR variant +1 more)	RAB23-related Carpenter syndrome	GUncertain significance
Select item 910334	NM_004282.4(BAG2):c.*4204T>C	BAG2, RAB23	Single nucleotide variant (3 prime UTR variant +1 more)	RAB23-related Carpenter syndrome	GUncertain significance
Select item 910333	NM_004282.4(BAG2):c.*4026A>G	BAG2, RAB23	Single nucleotide variant (3 prime UTR variant +1 more)	RAB23-related Carpenter syndrome	GUncertain significance
Select item 910332	NM_004282.4(BAG2):c.*3998A>G	BAG2, RAB23	Single nucleotide variant (3 prime UTR variant +1 more)	RAB23-related Carpenter syndrome	GBenign
Select item 910331	NM_004282.4(BAG2):c.*3952A>G	BAG2, RAB23	Single nucleotide variant (3 prime UTR variant +1 more)	RAB23-related Carpenter syndrome	GUncertain significance
Select item 910330	NM_004282.4(BAG2):c.*3930G>T	BAG2, RAB23	Single nucleotide variant (3 prime UTR variant +1 more)	RAB23-related Carpenter syndrome	GUncertain significance
Select item 909448	NM_004282.4(BAG2):c.*5594A>G	BAG2, RAB23	Single nucleotide variant (3 prime UTR variant +1 more)	RAB23-related Carpenter syndrome	GLikely benign
Select item 909447	NM_004282.4(BAG2):c.*5476C>T	BAG2, RAB23	Single nucleotide variant (3 prime UTR variant +1 more)	RAB23-related Carpenter syndrome	GUncertain significance
Select item 909372	NM_004282.4(BAG2):c.*3846C>T	BAG2, RAB23	Single nucleotide variant (3 prime UTR variant +1 more)	RAB23-related Carpenter syndrome	GBenign
Select item 909371	NM_004282.4(BAG2):c.*3786T>C	BAG2, RAB23	Single nucleotide variant (3 prime UTR variant +1 more)	RAB23-related Carpenter syndrome	GBenign
Select item 909370	NM_004282.4(BAG2):c.*3685C>T	BAG2, RAB23	Single nucleotide variant (3 prime UTR variant +1 more)	RAB23-related Carpenter syndrome	GUncertain significance
Select item 909369	NM_004282.4(BAG2):c.*3590C>T	BAG2, RAB23	Single nucleotide variant (3 prime UTR variant +1 more)	RAB23-related Carpenter syndrome	GUncertain significance
Select item 909368	NM_004282.4(BAG2):c.*3518C>T	BAG2, RAB23	Single nucleotide variant (3 prime UTR variant +1 more)	RAB23-related Carpenter syndrome	GUncertain significance
Select item 909367	NM_004282.4(BAG2):c.*3502G>T	BAG2, RAB23	Single nucleotide variant (3 prime UTR variant +1 more)	RAB23-related Carpenter syndrome	GUncertain significance
Select item 909366	NM_004282.4(BAG2):c.*3395A>G	BAG2, RAB23	Single nucleotide variant (3 prime UTR variant +1 more)	RAB23-related Carpenter syndrome	GUncertain significance
Select item 909365	NM_004282.4(BAG2):c.*3238G>A	BAG2, RAB23	Single nucleotide variant (3 prime UTR variant +1 more)	RAB23-related Carpenter syndrome	GUncertain significance
Select item 908659	NM_016277.5(RAB23):c.93A>G (p.Lys31=)	RAB23	Single nucleotide variant (synonymous variant +1 more)	RAB23-related Carpenter syndrome +1 more	GConflicting classifications of pathogenicity
Select item 908658	NM_016277.5(RAB23):c.123C>T (p.Thr41=)	RAB23	Single nucleotide variant (synonymous variant +1 more)	RAB23-related condition +2 more	GConflicting classifications of pathogenicity
Select item 908657	NM_016277.5(RAB23):c.156-9T>C	RAB23	Single nucleotide variant (intron variant)	RAB23-related Carpenter syndrome +1 more	GConflicting classifications of pathogenicity
Select item 908656	NM_016277.5(RAB23):c.223A>T (p.Thr75Ser)	RAB23 (T75S)	Single nucleotide variant (missense variant)	RAB23-related Carpenter syndrome	GUncertain significance
Select item 908592	NM_004282.4(BAG2):c.*5421T>C	BAG2, RAB23	Single nucleotide variant (3 prime UTR variant +1 more)	RAB23-related Carpenter syndrome	GUncertain significance
Select item 908591	NM_004282.4(BAG2):c.*5219A>G	BAG2, RAB23	Single nucleotide variant (3 prime UTR variant +1 more)	RAB23-related Carpenter syndrome	GUncertain significance
Select item 908590	NM_004282.4(BAG2):c.*5140G>C	BAG2, RAB23	Single nucleotide variant (3 prime UTR variant +1 more)	RAB23-related Carpenter syndrome	GUncertain significance
Select item 908522	NM_004282.4(BAG2):c.*3142C>G	BAG2, RAB23	Single nucleotide variant (3 prime UTR variant +1 more)	RAB23-related Carpenter syndrome	GUncertain significance
Select item 908521	NM_004282.4(BAG2):c.*3082A>G	BAG2, RAB23	Single nucleotide variant (3 prime UTR variant +1 more)	RAB23-related Carpenter syndrome	GLikely benign
Select item 908520	NM_004282.4(BAG2):c.*2973T>C	BAG2, RAB23	Single nucleotide variant (3 prime UTR variant +1 more)	RAB23-related Carpenter syndrome	GUncertain significance
Select item 908519	NM_004282.4(BAG2):c.*2941T>C	BAG2, RAB23	Single nucleotide variant (3 prime UTR variant +1 more)	RAB23-related Carpenter syndrome	GBenign
Select item 772095	NM_016277.5(RAB23):c.54A>G (p.Gly18=)	RAB23	Single nucleotide variant (synonymous variant +1 more)	RAB23-related condition +2 more	GConflicting classifications of pathogenicity
Select item 745096	NM_016277.5(RAB23):c.48G>C (p.Gly16=)	RAB23	Single nucleotide variant (synonymous variant +1 more)	Carpenter syndrome	GLikely benign
Select item 738344	NM_016277.5(RAB23):c.534T>C (p.Ala178=)	RAB23	Single nucleotide variant (synonymous variant +1 more)	Carpenter syndrome	GBenign
Select item 728362	NM_016277.5(RAB23):c.255T>C (p.Cys85=)	RAB23	Single nucleotide variant (synonymous variant)	RAB23-related condition +1 more	GLikely benign
Select item 714470	NM_016277.5(RAB23):c.171T>C (p.Asp57=)	RAB23	Single nucleotide variant (synonymous variant)	Carpenter syndrome +1 more	GLikely benign
Select item 701813	NM_016277.5(RAB23):c.552G>A (p.Thr184=)	RAB23	Single nucleotide variant (synonymous variant +1 more)	Carpenter syndrome +1 more	GLikely benign
Select item 638057	NM_016277.5(RAB23):c.416T>C (p.Leu139Pro)	RAB23 (L139P)	Single nucleotide variant (missense variant)	RAB23-related Carpenter syndrome	GUncertain significance
Select item 532184	NM_016277.5(RAB23):c.25G>A (p.Ala9Thr)	RAB23 (A9T)	Single nucleotide variant (missense variant +1 more)	Carpenter syndrome	GUncertain significance
Select item 357647	NM_016277.5(RAB23):c.-49C>T	RAB23	Single nucleotide variant (5 prime UTR variant +1 more)	RAB23-related Carpenter syndrome	GUncertain significance
Select item 357646	NM_016277.5(RAB23):c.-23C>T	RAB23	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 357644	NM_016277.5(RAB23):c.301T>G (p.Ser101Ala)	RAB23 (S101A)	Single nucleotide variant (missense variant)	Carpenter syndrome +3 more	GConflicting classifications of pathogenicity
Select item 357643	NM_016277.5(RAB23):c.398+9G>A	RAB23	Single nucleotide variant (intron variant)	RAB23-related condition +2 more	GConflicting classifications of pathogenicity
Select item 357642	NM_016277.5(RAB23):c.536A>C (p.Glu179Ala)	RAB23 (E179A)	Single nucleotide variant (missense variant +1 more)	RAB23-related condition +2 more	GConflicting classifications of pathogenicity
Select item 357641	NM_016277.5(RAB23):c.616T>A (p.Ser206Thr)	RAB23 (S206T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 357640	NM_016277.5(RAB23):c.619G>A (p.Gly207Ser)	RAB23 (G207S)	Single nucleotide variant (missense variant +1 more)	Carpenter syndrome +3 more	GBenign/Likely benign
Select item 357639	NM_016277.5(RAB23):c.714A>G (p.Ter238=)	RAB23	Single nucleotide variant (synonymous variant +1 more)	Carpenter syndrome +1 more	GConflicting classifications of pathogenicity
Select item 357638	NM_016277.5(RAB23):c.*145T>C	RAB23	Single nucleotide variant (3 prime UTR variant +1 more)	RAB23-related Carpenter syndrome	GUncertain significance
Select item 357636	NM_016277.5(RAB23):c.*544G>A	RAB23	Single nucleotide variant (3 prime UTR variant +1 more)	RAB23-related Carpenter syndrome	GUncertain significance
Select item 357634	NM_016277.5(RAB23):c.*618A>G	RAB23	Single nucleotide variant (3 prime UTR variant +1 more)	RAB23-related Carpenter syndrome	GUncertain significance
Select item 357633	NM_004282.4(BAG2):c.*5549A>G	BAG2, RAB23	Single nucleotide variant (3 prime UTR variant +1 more)	RAB23-related Carpenter syndrome	GUncertain significance
Select item 357632	NM_004282.4(BAG2):c.*5536A>C	BAG2, RAB23	Single nucleotide variant (3 prime UTR variant +1 more)	RAB23-related Carpenter syndrome	GUncertain significance
Select item 357631	NM_004282.4(BAG2):c.*5460C>T	BAG2, RAB23	Single nucleotide variant (3 prime UTR variant +1 more)	RAB23-related Carpenter syndrome	GBenign
Select item 357629	NM_004282.4(BAG2):c.*5287C>T	BAG2, RAB23	Single nucleotide variant (3 prime UTR variant +1 more)	RAB23-related Carpenter syndrome	GLikely benign
Select item 280858	NM_016277.5(RAB23):c.82C>T (p.Arg28Ter)	RAB23 (R28*)	Single nucleotide variant (nonsense +1 more)	Carpenter syndrome +3 more	GConflicting classifications of pathogenicity
Select item 211976	NM_016277.5(RAB23):c.218C>T (p.Ala73Val)	RAB23 (A73V)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 70495	NM_016277.5(RAB23):c.239G>A (p.Arg80Gln)	RAB23 (R80Q)	Single nucleotide variant (missense variant)	RAB23-related Carpenter syndrome	GUncertain significance
Select item 18426	NM_016277.5(RAB23):c.86dup (p.Tyr29Ter)	RAB23 (Y29*)	Duplication (nonsense +1 more)	RAB23-related Carpenter syndrome	GPathogenic
Select item 4592	NM_016277.5(RAB23):c.408dup (p.Glu137Ter)	RAB23 (E137*)	Duplication (nonsense)	RAB23-related condition	GPathogenic
Select item 4591	NM_016277.5(RAB23):c.434T>A (p.Leu145Ter)	RAB23 (L145*)	Single nucleotide variant (nonsense)	RAB23-related condition +4 more	GPathogenic

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Items: 78