ClinVar for MedGen (Select 98227) - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 981158	NM_001330988.2(SLC25A25):c.1083G>C (p.Gln361His)	SLC25A25 (Q315H +4 more)	Single nucleotide variant (missense variant +1 more)	Nephrolithiasis	GPathogenic
Select item 548679	NM_003052.5(SLC34A1):c.1724C>T (p.Thr575Ile)	SLC34A1 (T575I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 548678	NM_003052.5(SLC34A1):c.1204G>C (p.Gly402Arg)	SLC34A1 (G402R)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 548676	NM_000338.3(SLC12A1):c.1424G>A (p.Cys475Tyr)	SLC12A1 (C475Y)	Single nucleotide variant (missense variant)	Nephrocalcinosis +1 more	GLikely pathogenic
Select item 548675	NM_000338.3(SLC12A1):c.769G>A (p.Gly257Ser)	SLC12A1 (G257S)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 548674	NM_000341.4(SLC3A1):c.592del (p.Ala198fs)	SLC3A1 (A198fs)	Deletion (frameshift variant)	Cystinuria	GPathogenic/Likely pathogenic
Select item 548673	NM_012203.2(GRHPR):c.404+5G>A	GRHPR	Single nucleotide variant (intron variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 548672	NM_148960.3(CLDN19):c.535G>A (p.Gly179Ser)	CLDN19 (G179S)	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 548671	NM_000030.3(AGXT):c.1079G>C (p.Arg360Pro)	AGXT (R360P)	Single nucleotide variant (missense variant)	Nephrocalcinosis +1 more	GLikely pathogenic
Select item 523307	NC_012920.1:m.9355A>T	MT-CO3	Single nucleotide variant	Difficulty walking +12 more	GUncertain significance
Select item 267830	46;X;t(X;5)(q24;q13)dn		Translocation	Limb joint contracture +20 more	GPathogenic
Select item 265999	NM_000338.3(SLC12A1):c.1163del (p.Phe388fs)	SLC12A1 (F388fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 234926	NM_003052.5(SLC34A1):c.644+1G>A	SLC34A1	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic
Select item 204105	NM_000030.3(AGXT):c.481G>A (p.Gly161Ser)	AGXT (G161S)	Single nucleotide variant (missense variant)	Primary hyperoxaluria +2 more	GPathogenic
Select item 37935	NM_000059.4(BRCA2):c.4936_4939del (p.Glu1646fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 12228	NM_001692.4(ATP6V1B1):c.242T>C (p.Leu81Pro)	ATP6V1B1 (L81P)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 5931	NM_006580.4(CLDN16):c.485T>G (p.Phe162Cys)	CLDN16 (F232C +1 more)	Single nucleotide variant (missense variant)	Primary hypomagnesemia	GUncertain significance
Select item 5646	NM_000030.3(AGXT):c.731T>C (p.Ile244Thr)	AGXT (I244T)	Single nucleotide variant (missense variant)	AGXT-related condition +3 more	GPathogenic
Select item 5644	NM_000030.3(AGXT):c.121G>A (p.Gly41Arg)	AGXT (G41R)	Single nucleotide variant (missense variant)	Primary hyperoxaluria +2 more	GPathogenic
Select item 5636	NM_012203.2(GRHPR):c.103del (p.Asp35fs)	GRHPR (D35fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 5272	NM_004252.5(NHERF1):c.673G>A (p.Glu225Lys)	NHERF1 (E225K)	Single nucleotide variant (missense variant)	NHERF1-related condition +2 more	GBenign/Likely benign

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Items: 21