ClinVar for Gene (Select 57035) - ClinVar

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Links from Gene

Items: 65

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3156786	NM_020317.5(RSRP1):c.652A>T (p.Ser218Cys)	RSRP1 (S218C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156785	NM_020317.5(RSRP1):c.193C>G (p.Arg65Gly)	RSRP1 (R65G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3154040	NM_016124.6(RHD):c.608C>T (p.Thr203Met)	RHD, RSRP1 (T203M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3154039	NM_016124.6(RHD):c.590A>C (p.Asp197Ala)	RHD, RSRP1 (D31A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3154038	NM_016124.6(RHD):c.1225A>G (p.Lys409Glu)	RHD, RSRP1 (K243E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2685388	GRCh37/hg19 1p36.11(chr1:25472339-26240071)x1	AUNIP, LDLRAP1 +11 more	Copy number loss	not provided	GUncertain significance
Select item 2672331	NM_016124.6(RHD):c.579G>A (p.Glu193=)	RHD, RSRP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	LOC112577491, LOC112577504 +2149 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 2638498	NM_016124.6(RHD):c.1195G>A (p.Ala399Thr)	RHD, RSRP1 (A233T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2638497	NM_016124.6(RHD):c.1048G>C (p.Asp350His)	RHD, RSRP1 (D184H +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GBenign
Select item 2638496	NM_016124.6(RHD):c.254C>T (p.Ala85Val)	RHD, RSRP1 (A85V)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2592726	NM_020317.5(RSRP1):c.634C>T (p.Arg212Cys)	RSRP1 (R212C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2557579	NM_020317.5(RSRP1):c.812C>T (p.Ser271Phe)	RSRP1 (S271F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2544166	NM_020317.5(RSRP1):c.314A>G (p.Tyr105Cys)	RSRP1 (Y105C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2542714	NM_020317.5(RSRP1):c.130C>T (p.Arg44Trp)	RSRP1 (R44W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2523150	NM_020317.5(RSRP1):c.22A>T (p.Met8Leu)	RSRP1 (M8L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2485622	NM_020317.5(RSRP1):c.524G>A (p.Arg175Gln)	RSRP1 (R175Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2398634	NM_020317.5(RSRP1):c.403C>G (p.Arg135Gly)	RSRP1 (R135G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2377498	NM_016124.6(RHD):c.795C>G (p.Ile265Met)	RHD, RSRP1 (I99M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2319901	NM_016124.6(RHD):c.671A>C (p.Asn224Thr)	RHD, RSRP1 (N224T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2301305	NM_016124.6(RHD):c.785A>G (p.Gln262Arg)	RHD, RSRP1 (Q262R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2286895	NM_016124.6(RHD):c.541C>G (p.Leu181Val)	RHD, RSRP1 (L15V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2247390	NM_020317.5(RSRP1):c.739A>G (p.Ile247Val)	RSRP1 (I247V)	Single nucleotide variant (missense variant +1 more)	not specified	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 1300199	NM_016124.6(RHD):c.341G>C (p.Arg114Pro)	RHD, RSRP1 (R114P)	Single nucleotide variant (missense variant +2 more)	weakened D expression by serology	GAffects
Select item 1299855	NM_016124.6(RHD):c.611T>A (p.Ile204Lys)	RHD, RSRP1 (I204K +1 more)	Single nucleotide variant (missense variant +1 more)	serologic weak D phenotype	GAffects
Select item 1189029	NM_016124.6(RHD):c.604G>A (p.Ala202Thr)	RHD, RSRP1 (A202T +1 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 1185597	NM_016124.6(RHD):c.[186G>T;410C>T455A>C602C>G604G>A733G>C]	RHD, RSRP1 (V245L +8 more)	Single nucleotide variant (missense variant +2 more)	altered RHD phenotype	GAffects
Select item 1185596	NM_016124.6(RHD):c.709G>A (p.Ala237Thr)	RHD, RSRP1 (A237T +1 more)	Single nucleotide variant (missense variant +1 more)	weakened D expression by serology	GAffects
Select item 1185564	NM_016124.6(RHD):c.277_278delinsGG (p.Leu93Gly)	RHD, RSRP1 (L93G)	Indel (missense variant +2 more)	weakened D expression by serology	GAffects
Select item 791783	NM_016124.6(RHD):c.486+9T>C	RHD, RSRP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 780764	NM_016124.6(RHD):c.609G>A (p.Thr203=)	RHD, RSRP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 739638	NM_016124.6(RHD):c.366G>A (p.Ser122=)	RHD, RSRP1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
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 635097	NM_016124.6(RHD):c.509T>C (p.Met170Thr)	RHD, RSRP1 (M170T +1 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 635096	NM_016124.6(RHD):c.455A>C (p.Asn152Thr)	RHD, RSRP1 (N152T)	Single nucleotide variant (missense variant +2 more)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 635095	NM_016124.6(RHD):c.410C>T (p.Ala137Val)	RHD, RSRP1 (A137V)	Single nucleotide variant (missense variant +2 more)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 635094	NM_016124.6(RHD):c.186G>T (p.Leu62Phe)	RHD, RSRP1 (L62F)	Single nucleotide variant (missense variant +2 more)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 634996	NM_016124.4(RHD):c.[410C>T;455A>C509T>C667T>G]	RHD, RSRP1 (F223V +5 more)	Single nucleotide variant (missense variant +2 more)	Partial RhD	Gnot provided
Select item 634995	NM_016124.4(RHD):c.[186G>T;410C>T455A>C667T>G]	RHD, RSRP1 (F223V +4 more)	Single nucleotide variant (missense variant +2 more)	Partial RhD	Gnot provided
Select item 627647	NC_000001.11:g.25320307_25719620dup	LDLRAP1, LOC122056798 +29 more	Duplication	9q34 microduplication syndrome	GLikely benign
Select item 619080	NM_016124.6(RHD):c.270G>C (p.Trp90Cys)	RSRP1, RHD (W90C)	Single nucleotide variant (missense variant +2 more)	Weakened expression of D antigen	GAffects
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 430827	NM_001321772.2(RSRP1):c.-67+5331_-67+12970del	RHD, RSRP1	Deletion (intron variant)	RhD negative	GPathogenic
Select item 430826	Single allele	RSRP1, RHD	Deletion	RHD DEL	GPathogenic
Select item 430825	Single allele	RSRP1, RHD	Deletion	RHD DEL	GPathogenic
Select item 253025	NM_016124.6(RHD):c.452G>A (p.Gly151Asp)	RHD, RSRP1 (G151D)	Single nucleotide variant (missense variant +2 more)	Blood group antigen abnormality	GAffects
Select item 242597	NM_016124.6(RHD):c.602C>G (p.Thr201Arg)	RHD, RSRP1 (T201R +1 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 242596	NM_016124.6(RHD):c.667T>G (p.Phe223Val)	RHD, RSRP1 (F223V +1 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 242595	NM_016124.6(RHD):c.744C>T (p.Ser248=)	RHD, RSRP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 242594	NM_016124.6(RHD):c.957G>A (p.Val319=)	RHD, RSRP1	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 242593	NM_016124.6(RHD):c.1025T>C (p.Ile342Thr)	RHD, RSRP1 (I342T +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 242592	NM_016124.6(RHD):c.1063G>A (p.Gly355Ser)	RHD, RSRP1 (G355S +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Anti-D isoimmunization affecting pregnancy +1 more	Grisk factor
Select item 242564	NM_016124.6(RHD):c.697G>C (p.Glu233Gln)	RHD, RSRP1 (E233Q +1 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 242563	NM_016124.6(RHD):c.733G>C (p.Val245Leu)	RHD, RSRP1 (V245L +1 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 202166	NM_016124.4(RHD):c.[602C>G;667T>G;744C>T;957G>A;1025T>C;1063G>A]	RHD, RSRP1 (G355S +7 more)	Single nucleotide variant (non-coding transcript variant +3 more)	Weak RhD expression	Gnot provided
Select item 156731	Single allele	RHD, RSRP1	Deletion	Normal pregnancy +1 more	Gnot provided
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 147237	GRCh38/hg38 1p36.11(chr1:25282988-25321796)x1	RHD, RSRP1	Copy number loss	See cases	GBenign
Select item 59357	GRCh38/hg38 1p36.11(chr1:25258106-25441156)x1	LOC122056798, LOC129388471 +10 more	Copy number loss	See cases	GUncertain significance
Select item 17713	NM_016124.6(RHD):c.809T>G (p.Val270Gly)	RHD, RSRP1 (V270G +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Rhd, weak d, type I	GPathogenic
Select item 17712	NM_016124.6(RHD):c.329T>C (p.Leu110Pro)	RHD, RSRP1 (L110P)	Single nucleotide variant (missense variant +2 more)	RhD category D-VII	GPathogenic
Select item 17711	NC_000001.11:g.(25258851_25268086)_(25329003_25338415)del	LOC122056798, LOC129929767 +3 more	Deletion	RHD-NEGATIVE POLYMORPHISM	GBenign

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Links from Gene

Items: 65