Related gene-specific medical variations for Gene (Select 6007) - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2672331	NM_016124.6(RHD):c.579G>A (p.Glu193=)	RHD, RSRP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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 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 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 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 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 430826	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 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 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 147237	GRCh38/hg38 1p36.11(chr1:25282988-25321796)x1	RHD, RSRP1	Copy number loss	See cases	GBenign
Select item 17713	NM_016124.6(RHD):c.809T>G (p.Val270Gly)	RHD, RSRP1 (V270G +1 more)	Single nucleotide variant (missense 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

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Links from Gene

Items: 43