"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "HRNR"[gene - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2639196	NM_001009931.3(HRNR):c.8030G>C (p.Arg2677Pro)	CCDST, HRNR (R2677P +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2672351	NM_001009931.3(HRNR):c.7620G>A (p.Gln2540=)	CCDST, HRNR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2639197	NM_001009931.3(HRNR):c.7599C>A (p.Gly2533=)	CCDST, HRNR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2639198	NM_001009931.3(HRNR):c.7284T>C (p.Ser2428=)	CCDST, HRNR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3025410	NM_001009931.3(HRNR):c.7110C>T (p.His2370=)	CCDST, HRNR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2639199	NM_001009931.3(HRNR):c.7002C>A (p.Gly2334=)	CCDST, HRNR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2639200	NM_001009931.3(HRNR):c.6552C>T (p.Ser2184=)	CCDST, HRNR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2639201	NM_001009931.3(HRNR):c.6273T>C (p.Ser2091=)	CCDST, HRNR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2639202	NM_001009931.3(HRNR):c.6264C>A (p.Ser2088=)	HRNR, CCDST	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2639203	NM_001009931.3(HRNR):c.6057T>C (p.His2019=)	CCDST, HRNR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2639204	NM_001009931.3(HRNR):c.3453T>C (p.Ser1151=)	CCDST, HRNR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2639205	NM_001009931.3(HRNR):c.3232C>T (p.Gln1078Ter)	CCDST, HRNR (Q1002* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely benign
Select item 2639206	NM_001009931.3(HRNR):c.3158G>A (p.Arg1053Gln)	CCDST, HRNR (R1053Q +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 870249	NM_001009931.3(HRNR):c.3041A>G (p.His1014Arg)	CCDST, HRNR (H1014R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2639207	NM_001009931.3(HRNR):c.3023G>C (p.Ser1008Thr)	CCDST, HRNR (S1008T +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2639208	NM_001009931.3(HRNR):c.2880C>T (p.His960=)	CCDST, HRNR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2639209	NM_001009931.3(HRNR):c.2447G>T (p.Gly816Val)	CCDST, HRNR (G740V +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2639210	NM_001009931.3(HRNR):c.2325T>G (p.Ser775=)	CCDST, HRNR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 870785	NM_001009931.3(HRNR):c.2139C>G (p.Tyr713Ter)	CCDST, HRNR (Y713*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 870786	NM_001009931.3(HRNR):c.1963G>C (p.Gly655Arg)	CCDST, HRNR (G655R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2639211	NM_001009931.3(HRNR):c.1800C>T (p.His600=)	CCDST, HRNR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2639212	NM_001009931.3(HRNR):c.1634G>A (p.Arg545His)	CCDST, HRNR (R469H +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2639213	NM_001009931.3(HRNR):c.1578A>G (p.Gln526=)	CCDST, HRNR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2639214	NM_001009931.3(HRNR):c.1116T>A (p.Ser372=)	CCDST, HRNR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2639215	NM_001009931.3(HRNR):c.931C>A (p.Arg311=)	CCDST, HRNR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2639216	NM_001009931.3(HRNR):c.900G>A (p.Gly300=)	CCDST, HRNR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2639217	NM_001009931.3(HRNR):c.742G>A (p.Gly248Arg)	CCDST, HRNR (G172R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2639218	NM_001009931.3(HRNR):c.636C>T (p.Ser212=)	CCDST, HRNR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 770329	NM_001009931.3(HRNR):c.21C>T (p.Gly7=)	CCDST, HRNR	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign

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Items: 29