Related gene-specific medical variations for Gene (Select 846) - ClinVar

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Links from Gene

Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3246879	NC_000003.11:g.(?_121980355)_(121981279_?)del	CASR	Deletion	Familial hypocalciuric hypercalcemia +1 more	GPathogenic
Select item 2688720	NM_000388.4(CASR):c.95T>A (p.Ile32Asn)	CASR (I32N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2684152	NM_000388.4(CASR):c.488C>G (p.Pro163Arg)	CASR (P163R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2573092	NM_000388.4(CASR):c.2360G>A (p.Cys787Tyr)	CASR (C787Y +1 more)	Single nucleotide variant (missense variant)	Familial hypocalciuric hypercalcemia 1	GLikely pathogenic
Select item 2570610	NM_000388.4(CASR):c.509C>G (p.Ser170Cys)	CASR (S170C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2439767	NM_000388.4(CASR):c.488C>T (p.Pro163Leu)	CASR (P163L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1807344	NM_000388.4(CASR):c.533A>G (p.Asn178Ser)	CASR (N178S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1807343	NM_000388.4(CASR):c.2071T>G (p.Cys691Gly)	CASR (C691G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1807342	NM_000388.4(CASR):c.2240C>G (p.Pro747Arg)	CASR (P747R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1807341	NM_000388.4(CASR):c.1340G>T (p.Gly447Val)	CASR (G447V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1683780	NM_000388.4(CASR):c.2156G>A (p.Trp719Ter)	CASR (W719* +1 more)	Single nucleotide variant (nonsense)	Familial hypocalciuric hypercalcemia 1	GPathogenic
Select item 1319286	NM_000388.4(CASR):c.325G>A (p.Glu109Lys)	CASR (E109K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1256482	NM_000388.4(CASR):c.2154G>A (p.Trp718Ter)	CASR (W718* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1256481	NM_000388.4(CASR):c.2129T>C (p.Ile710Thr)	CASR (I710T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1256480	NM_000388.4(CASR):c.2042A>G (p.Gln681Arg)	CASR (Q681R +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 978027	NM_000388.4(CASR):c.2429G>A (p.Ser810Asn)	CASR (S810N +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant hypocalcemia 1	GPathogenic
Select item 870267	NM_000388.4:c.2643_2644insAlu	CASR	Insertion	Familial hypocalciuric hypercalcemia +1 more	GPathogenic
Select item 809526	NM_000388.4(CASR):c.449C>A (p.Ser150Tyr)	CASR (S150Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 591659	NM_000388.4(CASR):c.1459G>A (p.Gly487Arg)	CASR (G487R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 562459	NM_000388.4(CASR):c.2165del (p.Asn722fs)	CASR (N722fs +1 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 257608	NM_000388.4(CASR):c.492+18G>C	CASR	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 257607	NM_000388.4(CASR):c.2412C>T (p.Ala804=)	CASR	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 64436	NM_000388.4(CASR):c.3107T>C (p.Val1036Ala)	CASR (V1036A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 64435	NM_000388.4(CASR):c.2944C>T (p.Pro982Ser)	CASR (P982S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 64434	NM_000388.4(CASR):c.2920A>T (p.Thr974Ser)	CASR (T974S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 64430	NM_000388.4(CASR):c.1629C>T (p.Ser543=)	CASR	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 64426	NM_000388.4(CASR):c.1069A>T (p.Asn357Tyr)	CASR (N357Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 8316	NM_000388.4:c.2628_2629insAlu	CASR	Insertion	Familial hypocalciuric hypercalcemia 1 +1 more	GPathogenic

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Links from Gene

Items: 28