RHCE[gene] - ClinVar

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Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	LOC129929105, LOC129929106 +2149 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	LOC129929733, LOC129929734 +1145 more	Copy number gain	See cases	GPathogenic
Select item 59357	GRCh38/hg38 1p36.11(chr1:25258106-25441156)x1	LOC122056798, LOC129388471 +10 more	Copy number loss	See cases	GUncertain significance
Select item 627647	NC_000001.11:g.25320307_25719620dup	LDLRAP1, LOC122056798 +29 more	Duplication	9q34 microduplication syndrome	GLikely benign
Select item 152940	GRCh38/hg38 1p36.11(chr1:25369211-25940790)x3	AUNIP, LDLRAP1 +44 more	Copy number gain	See cases	GUncertain significance
Select item 2543857	NM_020485.8(RHCE):c.1195G>A (p.Ala399Thr)	RHCE (A248T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544702	NM_020485.8(RHCE):c.1183G>A (p.Ala395Thr)	RHCE (A395T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 242562	NM_020485.8(RHCE):c.1117G>A (p.Ala373Thr)	RHCE, RHD (A373T +2 more)	Single nucleotide variant (missense variant +1 more)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 208474	NM_016124.4(RHD):c.[602C>G;667T>G;697G>C;733G>C;744C>T;1136C>T]	RHCE, RHD +1 more (A373T +10 more)	Single nucleotide variant (missense variant +2 more)	Weak RhD expression	Gnot provided
Select item 2467551	NM_020485.8(RHCE):c.1100T>C (p.Ile367Thr)	RHCE (I216T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 153081	GRCh38/hg38 1p36.11(chr1:25376278-25586537)x3	LDLRAP1, LOC129388472 +10 more	Copy number gain	See cases	GBenign
Select item 2490896	NM_020485.8(RHCE):c.1051A>G (p.Thr351Ala)	RHCE (T246A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 523642	NM_020485.8(RHCE):c.1044_1050dup (p.Thr351fs)	RHCE (T246fs +2 more)	Duplication (frameshift variant +1 more)	RH-NULL, AMORPH TYPE	GPathogenic
Select item 791109	NM_020485.8(RHCE):c.1025C>T (p.Thr342Ile)	RHCE (T191I +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 17710	NM_020485.8(RHCE):c.966_968delinsC (p.His323fs)	RHCE (H172fs +2 more)	Indel (frameshift variant +1 more)	RH-NULL, AMORPH TYPE	GPathogenic
Select item 523641	NM_020485.8(RHCE):c.963del (p.Ile322fs)	RHCE (I171fs +2 more)	Deletion (frameshift variant +1 more)	RH-NULL, AMORPH TYPE	GPathogenic
Select item 2269569	NM_020485.8(RHCE):c.938C>T (p.Pro313Leu)	RHCE (P313L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2286194	NM_020485.8(RHCE):c.932G>A (p.Cys311Tyr)	RHCE (C206Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3154027	NM_020485.8(RHCE):c.919G>A (p.Gly307Arg)	RHCE (G202R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 789916	NM_020485.8(RHCE):c.916A>G (p.Ile306Val)	RHCE (I306V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3154026	NM_020485.8(RHCE):c.912C>G (p.Ile304Met)	RHCE (I304M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1185563	NM_020485.8(RHCE):c.883A>G (p.Met295Val)	RHCE (M190V +1 more)	Single nucleotide variant (missense variant +1 more)	altered RhC expression	GAffects
Select item 2616134	NM_020485.8(RHCE):c.820G>A (p.Val274Met)	RHCE (V169M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3154025	NM_020485.8(RHCE):c.806A>G (p.Tyr269Cys)	RHCE (Y164C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 789917	NM_020485.8(RHCE):c.712A>G (p.Met238Val)	RHCE (M238V)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 974717	NM_020485.5(RHCE):c.148+2367_676dup	RHCE	Duplication (splice acceptor variant +1 more)	Megacolon	GUncertain significance
Select item 17708	NM_020485.8(RHCE):c.676= (p.Ala226=)	RHCE	Single nucleotide variant (no sequence alteration +1 more)	RH E/e POLYMORPHISM	GBenign
Select item 523640	NM_020485.8(RHCE):c.634+1G>T	RHCE	Single nucleotide variant (intron variant +1 more)	RH-NULL, AMORPH TYPE	GPathogenic
Select item 2236130	NM_020485.8(RHCE):c.557G>A (p.Cys186Tyr)	RHCE (C186Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2328304	NM_020485.8(RHCE):c.440T>A (p.Val147Glu)	RHCE (V147E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154024	NM_020485.8(RHCE):c.427G>C (p.Val143Leu)	RHCE (V143L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608518	NM_020485.8(RHCE):c.382G>A (p.Gly128Ser)	RHCE (G128S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2638499	NM_020485.8(RHCE):c.361A>T (p.Met121Leu)	RHCE (M121L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 242743	NM_020485.8(RHCE):c.307= (p.Pro103=)	RHCE	Single nucleotide variant (no sequence alteration)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 156358	NM_020485.8(RHCE):c.307C>T (p.Pro103Ser)	RHCE (P103S)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 775525	NM_020485.8(RHCE):c.254C>G (p.Ala85Gly)	RHCE (A85G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 242741	NM_020485.8(RHCE):c.203= (p.Asn68=)	RHCE	Single nucleotide variant (no sequence alteration)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 242742	NM_020485.8(RHCE):c.178= (p.Leu60=)	RHCE	Single nucleotide variant (no sequence alteration)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 156357	NM_020485.8(RHCE):c.178C>A (p.Leu60Ile)	RHCE (L60I)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 3234733	NM_020485.8(RHCE):c.174G>C (p.Ala58=)	RHCE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2265668	NM_020485.8(RHCE):c.159T>A (p.Asp53Glu)	RHCE (D53E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2638500	NM_020485.8(RHCE):c.122A>G (p.Gln41Arg)	RHCE (Q41R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 39358	NM_020485.4(RHCE):c.48G= (p.Trp16=)	RHCE	Single nucleotide variant (no sequence alteration +1 more)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 17709	NM_020485.4(RHCE):c.[48G=;178C=;203A=;307C=]	RHCE	Single nucleotide variant (no sequence alteration +1 more)	RH C/c POLYMORPHISM	GBenign
Select item 3154023	NM_020485.8(RHCE):c.31C>T (p.Arg11Cys)	RHCE (R11C)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3154022	NM_020485.8(RHCE):c.20G>A (p.Arg7Gln)	RHCE (R7Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685388	GRCh37/hg19 1p36.11(chr1:25472339-26240071)x1	AUNIP, LDLRAP1 +11 more	Copy number loss	not provided	GUncertain significance
Select item 1807901	GRCh37/hg19 1p36.11(chr1:25502292-25753638)x3	RHCE, RHD +3 more	Copy number gain	not provided	GUncertain significance
Select item 974711	NC_000001.11:g.25389184_25418273dup	RHCE	Duplication	Megacolon	GUncertain significance
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	ANGPTL7, C1orf127 +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 547150	GRCh37/hg19 1p36.11(chr1:25609449-25777511)x3	RHD, TMEM50A +2 more	Copy number gain	not provided	GLikely benign
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +2014 more	Copy number gain	See cases	GPathogenic
Select item 394626	GRCh37/hg19 1p36.11(chr1:25611203-25688876)x3	RHCE, RHD +1 more	Copy number gain	See cases	GBenign

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Items: 54