ClinVar for MedGen (Select 894363) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 22005671.	NM_021619.3(PRDM12):c.570+17G>T GRCh37: Chr9:133543717 GRCh38: Chr9:130668330	PRDM12		Congenital insensitivity to pain-hypohidrosis syndrome	Likely benign (Sep 29, 2022)	criteria provided, single submitter
Select item 21997462.	NM_021619.3(PRDM12):c.1076C>T (p.Ala359Val) GRCh37: Chr9:133557028 GRCh38: Chr9:130681641	PRDM12	A359V	Congenital insensitivity to pain-hypohidrosis syndrome	Uncertain significance (Aug 21, 2022)	criteria provided, single submitter
Select item 21980003.	NM_021619.3(PRDM12):c.128A>G (p.Asn43Ser) GRCh37: Chr9:133540168 GRCh38: Chr9:130664781	PRDM12	N43S	Congenital insensitivity to pain-hypohidrosis syndrome	Uncertain significance (Jun 15, 2022)	criteria provided, single submitter
Select item 21794784.	NM_021619.3(PRDM12):c.138G>A (p.Gly46=) GRCh37: Chr9:133540178 GRCh38: Chr9:130664791	PRDM12		Congenital insensitivity to pain-hypohidrosis syndrome	Likely benign (Oct 21, 2022)	criteria provided, single submitter
Select item 21782305.	NM_021619.3(PRDM12):c.989T>C (p.Leu330Pro) GRCh37: Chr9:133556941 GRCh38: Chr9:130681554	PRDM12	L330P	Congenital insensitivity to pain-hypohidrosis syndrome	Uncertain significance (Jul 19, 2022)	criteria provided, single submitter
Select item 21778086.	NM_021619.3(PRDM12):c.1007C>T (p.Ala336Val) GRCh37: Chr9:133556959 GRCh38: Chr9:130681572	PRDM12	A336V	Congenital insensitivity to pain-hypohidrosis syndrome	Uncertain significance (Jul 17, 2022)	criteria provided, single submitter
Select item 21584197.	NM_021619.3(PRDM12):c.31C>A (p.Leu11Met) GRCh37: Chr9:133540071 GRCh38: Chr9:130664684	PRDM12	L11M	Congenital insensitivity to pain-hypohidrosis syndrome	Uncertain significance (Dec 24, 2021)	criteria provided, single submitter
Select item 21582708.	NM_021619.3(PRDM12):c.224-14C>T GRCh37: Chr9:133541981 GRCh38: Chr9:130666594	PRDM12		Congenital insensitivity to pain-hypohidrosis syndrome	Likely benign (Sep 14, 2022)	criteria provided, single submitter
Select item 21530679.	NM_021619.3(PRDM12):c.224-15G>T GRCh37: Chr9:133541980 GRCh38: Chr9:130666593	PRDM12		Congenital insensitivity to pain-hypohidrosis syndrome	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 214813910.	NM_021619.3(PRDM12):c.996A>C (p.Ala332=) GRCh37: Chr9:133556948 GRCh38: Chr9:130681561	PRDM12		Congenital insensitivity to pain-hypohidrosis syndrome	Likely benign (Feb 28, 2022)	criteria provided, single submitter
Select item 214803311.	NM_021619.3(PRDM12):c.1001C>T (p.Ser334Leu) GRCh37: Chr9:133556953 GRCh38: Chr9:130681566	PRDM12	S334L	Congenital insensitivity to pain-hypohidrosis syndrome	Uncertain significance (May 30, 2022)	criteria provided, single submitter
Select item 214591812.	NM_021619.3(PRDM12):c.1035C>T (p.Pro345=) GRCh37: Chr9:133556987 GRCh38: Chr9:130681600	PRDM12		Congenital insensitivity to pain-hypohidrosis syndrome	Likely benign (Jan 19, 2022)	criteria provided, single submitter
Select item 214398713.	NM_021619.3(PRDM12):c.70C>T (p.Leu24=) GRCh37: Chr9:133540110 GRCh38: Chr9:130664723	PRDM12		Congenital insensitivity to pain-hypohidrosis syndrome	Likely benign (Sep 19, 2022)	criteria provided, single submitter
Select item 214265014.	NM_021619.3(PRDM12):c.224-11C>G GRCh37: Chr9:133541984 GRCh38: Chr9:130666597	LOC126860775, PRDM12		Congenital insensitivity to pain-hypohidrosis syndrome	Likely benign (Feb 14, 2022)	criteria provided, single submitter
Select item 214201815.	NM_021619.3(PRDM12):c.1005C>G (p.Pro335=) GRCh37: Chr9:133556957 GRCh38: Chr9:130681570	PRDM12		Congenital insensitivity to pain-hypohidrosis syndrome	Likely benign (Aug 20, 2022)	criteria provided, single submitter
Select item 213055116.	NM_021619.3(PRDM12):c.1043_1044insTGC (p.Ala359_His360insAla) GRCh37: Chr9:133556993-133556994 GRCh38: Chr9:130681606-130681607	PRDM12		Congenital insensitivity to pain-hypohidrosis syndrome	Uncertain significance (Apr 25, 2022)	criteria provided, single submitter
Select item 212660417.	NM_021619.3(PRDM12):c.662A>C (p.Asp221Ala) GRCh37: Chr9:133554007 GRCh38: Chr9:130678620	PRDM12	D221A	Congenital insensitivity to pain-hypohidrosis syndrome	Uncertain significance (Apr 15, 2022)	criteria provided, single submitter
Select item 212141818.	NM_021619.3(PRDM12):c.367G>A (p.Ala123Thr) GRCh37: Chr9:133542138 GRCh38: Chr9:130666751	LOC126860775, PRDM12	A123T	Congenital insensitivity to pain-hypohidrosis syndrome	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter
Select item 212135019.	NM_021619.3(PRDM12):c.48G>A (p.Gly16=) GRCh37: Chr9:133540088 GRCh38: Chr9:130664701	PRDM12		Congenital insensitivity to pain-hypohidrosis syndrome	Likely benign (Jul 30, 2022)	criteria provided, single submitter
Select item 211173420.	NM_021619.3(PRDM12):c.683-8G>C GRCh37: Chr9:133556627 GRCh38: Chr9:130681240	PRDM12		Congenital insensitivity to pain-hypohidrosis syndrome	Likely benign (Mar 25, 2022)	criteria provided, single submitter
Select item 209352021.	NM_021619.3(PRDM12):c.388T>C (p.Cys130Arg) GRCh37: Chr9:133542159 GRCh38: Chr9:130666772	PRDM12, LOC126860775	C130R	Congenital insensitivity to pain-hypohidrosis syndrome	Uncertain significance (Feb 5, 2022)	criteria provided, single submitter
Select item 209237122.	NM_021619.3(PRDM12):c.303del (p.Ile102fs) GRCh37: Chr9:133542074 GRCh38: Chr9:130666687	LOC126860775, PRDM12	I102fs	Congenital insensitivity to pain-hypohidrosis syndrome	Pathogenic (Aug 27, 2022)	criteria provided, single submitter
Select item 208498723.	NM_021619.3(PRDM12):c.682+8T>A GRCh37: Chr9:133554035 GRCh38: Chr9:130678648	PRDM12		Congenital insensitivity to pain-hypohidrosis syndrome	Likely benign (Jan 6, 2022)	criteria provided, single submitter
Select item 208354224.	NM_021619.3(PRDM12):c.708G>C (p.Ala236=) GRCh37: Chr9:133556660 GRCh38: Chr9:130681273	PRDM12		Congenital insensitivity to pain-hypohidrosis syndrome	Likely benign (Jul 15, 2022)	criteria provided, single submitter
Select item 207833125.	NM_021619.3(PRDM12):c.945C>G (p.Arg315=) GRCh37: Chr9:133556897 GRCh38: Chr9:130681510	PRDM12		Congenital insensitivity to pain-hypohidrosis syndrome	Likely benign (Apr 17, 2022)	criteria provided, single submitter
Select item 207585426.	NM_021619.3(PRDM12):c.975G>A (p.Pro325=) GRCh37: Chr9:133556927 GRCh38: Chr9:130681540	PRDM12		Congenital insensitivity to pain-hypohidrosis syndrome	Likely benign (Jun 20, 2022)	criteria provided, single submitter
Select item 207179827.	NM_021619.3(PRDM12):c.439C>T (p.Arg147Cys) GRCh37: Chr9:133543569 GRCh38: Chr9:130668182	PRDM12	R147C	Inborn genetic diseases, Congenital insensitivity to pain-hypohidrosis syndrome	Uncertain significance (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 206780528.	NM_021619.3(PRDM12):c.794A>C (p.His265Pro) GRCh37: Chr9:133556746 GRCh38: Chr9:130681359	PRDM12	H265P	Congenital insensitivity to pain-hypohidrosis syndrome	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter
Select item 206379229.	NM_021619.3(PRDM12):c.570+1GT[3] GRCh37: Chr9:133543701-133543710 GRCh38: Chr9:130668314-130668323	PRDM12		Congenital insensitivity to pain-hypohidrosis syndrome	Likely benign (Apr 11, 2022)	criteria provided, single submitter
Select item 206314630.	NM_021619.3(PRDM12):c.738C>T (p.Val246=) GRCh37: Chr9:133556690 GRCh38: Chr9:130681303	PRDM12		Congenital insensitivity to pain-hypohidrosis syndrome	Likely benign (Sep 22, 2022)	criteria provided, single submitter
Select item 205676231.	NM_021619.3(PRDM12):c.57G>T (p.Ala19=) GRCh37: Chr9:133540097 GRCh38: Chr9:130664710	PRDM12		Congenital insensitivity to pain-hypohidrosis syndrome	Likely benign (Jan 27, 2022)	criteria provided, single submitter
Select item 204762432.	NM_021619.3(PRDM12):c.431G>C (p.Gly144Ala) GRCh37: Chr9:133543561 GRCh38: Chr9:130668174	PRDM12	G144A	Congenital insensitivity to pain-hypohidrosis syndrome	Uncertain significance (Jul 15, 2022)	criteria provided, single submitter
Select item 204691333.	NM_021619.3(PRDM12):c.897C>T (p.Tyr299=) GRCh37: Chr9:133556849 GRCh38: Chr9:130681462	PRDM12		Congenital insensitivity to pain-hypohidrosis syndrome	Likely benign (Dec 25, 2021)	criteria provided, single submitter
Select item 204668334.	NM_021619.3(PRDM12):c.996_1016dup (p.Ala339_Pro340insHisSerProAlaLeuProAla) GRCh37: Chr9:133556945-133556946 GRCh38: Chr9:130681558-130681559	PRDM12		Congenital insensitivity to pain-hypohidrosis syndrome	Uncertain significance (Mar 23, 2022)	criteria provided, single submitter
Select item 204627735.	NM_021619.3(PRDM12):c.16C>T (p.Leu6Phe) GRCh37: Chr9:133540056 GRCh38: Chr9:130664669	PRDM12	L6F	Congenital insensitivity to pain-hypohidrosis syndrome	Uncertain significance (Sep 19, 2022)	criteria provided, single submitter
Select item 204428436.	NM_021619.3(PRDM12):c.400A>C (p.Asn134His) GRCh37: Chr9:133542171 GRCh38: Chr9:130666784	LOC126860775, PRDM12	N134H	Congenital insensitivity to pain-hypohidrosis syndrome	Uncertain significance (Apr 16, 2022)	criteria provided, single submitter
Select item 204263337.	NM_021619.3(PRDM12):c.696G>T (p.Pro232=) GRCh37: Chr9:133556648 GRCh38: Chr9:130681261	PRDM12		Congenital insensitivity to pain-hypohidrosis syndrome	Likely benign (Mar 11, 2022)	criteria provided, single submitter
Select item 204263238.	NM_021619.3(PRDM12):c.694C>T (p.Pro232Ser) GRCh37: Chr9:133556646 GRCh38: Chr9:130681259	PRDM12	P232S	Congenital insensitivity to pain-hypohidrosis syndrome	Uncertain significance (Mar 11, 2022)	criteria provided, single submitter
Select item 203980639.	NM_021619.3(PRDM12):c.682+10C>T GRCh37: Chr9:133554037 GRCh38: Chr9:130678650	PRDM12		Congenital insensitivity to pain-hypohidrosis syndrome	Likely benign (Dec 11, 2021)	criteria provided, single submitter
Select item 203778440.	NM_021619.3(PRDM12):c.368C>T (p.Ala123Val) GRCh37: Chr9:133542139 GRCh38: Chr9:130666752	LOC126860775, PRDM12	A123V	Congenital insensitivity to pain-hypohidrosis syndrome	Uncertain significance (Oct 18, 2022)	criteria provided, single submitter
Select item 203700841.	NM_021619.3(PRDM12):c.507C>T (p.Asn169=) GRCh37: Chr9:133543637 GRCh38: Chr9:130668250	PRDM12		Congenital insensitivity to pain-hypohidrosis syndrome	Likely benign (May 4, 2022)	criteria provided, single submitter
Select item 203652142.	NM_021619.3(PRDM12):c.415-12A>G GRCh37: Chr9:133543533 GRCh38: Chr9:130668146	PRDM12		Congenital insensitivity to pain-hypohidrosis syndrome	Likely benign (Oct 22, 2022)	criteria provided, single submitter
Select item 201115343.	NM_021619.3(PRDM12):c.890G>T (p.Arg297Leu) GRCh37: Chr9:133556842 GRCh38: Chr9:130681455	PRDM12	R297L	Congenital insensitivity to pain-hypohidrosis syndrome	Uncertain significance (Jul 11, 2022)	criteria provided, single submitter
Select item 200686844.	NM_021619.3(PRDM12):c.1023C>A (p.His341Gln) GRCh37: Chr9:133556975 GRCh38: Chr9:130681588	PRDM12	H341Q	Congenital insensitivity to pain-hypohidrosis syndrome	Uncertain significance (Jun 15, 2022)	criteria provided, single submitter
Select item 200464445.	NM_021619.3(PRDM12):c.1048_1049insACGCCGCCG (p.Ala349_Ala350insAspAlaAla) GRCh37: Chr9:133556992-133556993 GRCh38: Chr9:130681605-130681606	PRDM12		Congenital insensitivity to pain-hypohidrosis syndrome	Uncertain significance (Jul 29, 2022)	criteria provided, single submitter
Select item 200193246.	NM_021619.3(PRDM12):c.683-7C>T GRCh37: Chr9:133556628 GRCh38: Chr9:130681241	PRDM12		Congenital insensitivity to pain-hypohidrosis syndrome	Likely benign (Aug 9, 2022)	criteria provided, single submitter
Select item 199917347.	NM_021619.3(PRDM12):c.1013C>A (p.Pro338His) GRCh37: Chr9:133556965 GRCh38: Chr9:130681578	PRDM12	P338H	Congenital insensitivity to pain-hypohidrosis syndrome	Uncertain significance (May 26, 2022)	criteria provided, single submitter
Select item 199595848.	NM_021619.3(PRDM12):c.884G>A (p.Gly295Asp) GRCh37: Chr9:133556836 GRCh38: Chr9:130681449	PRDM12	G295D	Congenital insensitivity to pain-hypohidrosis syndrome	Uncertain significance (May 18, 2022)	criteria provided, single submitter
Select item 199300549.	NM_021619.3(PRDM12):c.161G>A (p.Ser54Asn) GRCh37: Chr9:133540201 GRCh38: Chr9:130664814	PRDM12	S54N	Congenital insensitivity to pain-hypohidrosis syndrome	Uncertain significance (May 11, 2022)	criteria provided, single submitter
Select item 196714850.	NM_021619.3(PRDM12):c.1085T>A (p.Leu362Gln) GRCh37: Chr9:133557037 GRCh38: Chr9:130681650	PRDM12	L362Q	Congenital insensitivity to pain-hypohidrosis syndrome	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 195057351.	NM_021619.3(PRDM12):c.714C>T (p.Gly238=) GRCh37: Chr9:133556666 GRCh38: Chr9:130681279	PRDM12		Congenital insensitivity to pain-hypohidrosis syndrome	Likely benign (Sep 24, 2022)	criteria provided, single submitter
Select item 194136652.	NM_021619.3(PRDM12):c.476G>A (p.Ser159Asn) GRCh37: Chr9:133543606 GRCh38: Chr9:130668219	PRDM12	S159N	Congenital insensitivity to pain-hypohidrosis syndrome	Uncertain significance (Dec 21, 2021)	criteria provided, single submitter
Select item 194021853.	NM_021619.3(PRDM12):c.132G>A (p.Val44=) GRCh37: Chr9:133540172 GRCh38: Chr9:130664785	PRDM12		Congenital insensitivity to pain-hypohidrosis syndrome	Likely benign (Sep 22, 2022)	criteria provided, single submitter
Select item 191931354.	NM_021619.3(PRDM12):c.571-11C>T GRCh37: Chr9:133553905 GRCh38: Chr9:130678518	PRDM12		Congenital insensitivity to pain-hypohidrosis syndrome	Likely benign (Sep 24, 2022)	criteria provided, single submitter
Select item 191068455.	NM_021619.3(PRDM12):c.183A>G (p.Thr61=) GRCh37: Chr9:133540223 GRCh38: Chr9:130664836	PRDM12		Congenital insensitivity to pain-hypohidrosis syndrome	Likely benign (May 16, 2022)	criteria provided, single submitter
Select item 190847856.	NM_021619.3(PRDM12):c.354C>T (p.Thr118=) GRCh37: Chr9:133542125 GRCh38: Chr9:130666738	LOC126860775, PRDM12		Congenital insensitivity to pain-hypohidrosis syndrome	Likely benign (Jan 5, 2022)	criteria provided, single submitter
Select item 190071757.	NM_021619.3(PRDM12):c.682+14A>G GRCh37: Chr9:133554041 GRCh38: Chr9:130678654	PRDM12		Congenital insensitivity to pain-hypohidrosis syndrome	Likely benign (Jul 29, 2022)	criteria provided, single submitter
Select item 177207158.	NM_021619.3(PRDM12):c.1034C>A (p.Pro345His) GRCh37: Chr9:133556986 GRCh38: Chr9:130681599	PRDM12	P345H	Congenital insensitivity to pain-hypohidrosis syndrome, Inborn genetic diseases	Uncertain significance (Aug 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 175761859.	NM_021619.3(PRDM12):c.719C>G (p.Ala240Gly) GRCh37: Chr9:133556671 GRCh38: Chr9:130681284	PRDM12	A240G	Congenital insensitivity to pain-hypohidrosis syndrome, Inborn genetic diseases	Uncertain significance (Apr 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 174777860.	NM_021619.3(PRDM12):c.547A>G (p.Ser183Gly) GRCh37: Chr9:133543677 GRCh38: Chr9:130668290	PRDM12	S183G	Congenital insensitivity to pain-hypohidrosis syndrome, Inborn genetic diseases	Uncertain significance (Jun 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 174743061.	NM_021619.3(PRDM12):c.541G>A (p.Gly181Ser) GRCh37: Chr9:133543671 GRCh38: Chr9:130668284	PRDM12	G181S	Congenital insensitivity to pain-hypohidrosis syndrome, Inborn genetic diseases	Uncertain significance (Mar 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 171766962.	NM_021619.3(PRDM12):c.866A>G (p.His289Arg) GRCh37: Chr9:133556818 GRCh38: Chr9:130681431	PRDM12	H289R	Congenital insensitivity to pain-hypohidrosis syndrome	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 166445763.	NM_021619.3(PRDM12):c.682+10C>A GRCh37: Chr9:133554037 GRCh38: Chr9:130678650	PRDM12		Congenital insensitivity to pain-hypohidrosis syndrome	Likely benign (Oct 13, 2021)	criteria provided, single submitter
Select item 164947164.	NM_021619.3(PRDM12):c.690C>T (p.Phe230=) GRCh37: Chr9:133556642 GRCh38: Chr9:130681255	PRDM12		Congenital insensitivity to pain-hypohidrosis syndrome	Likely benign (Oct 25, 2021)	criteria provided, single submitter
Select item 164644565.	NM_021619.3(PRDM12):c.1032G>A (p.Ala344=) GRCh37: Chr9:133556984 GRCh38: Chr9:130681597	PRDM12		Congenital insensitivity to pain-hypohidrosis syndrome	Likely benign (Sep 25, 2022)	criteria provided, single submitter
Select item 164604166.	NM_021619.3(PRDM12):c.570+1GT[7] GRCh37: Chr9:133543701-133543702 GRCh38: Chr9:130668314-130668315	PRDM12		Congenital insensitivity to pain-hypohidrosis syndrome	Benign (Dec 17, 2021)	criteria provided, single submitter
Select item 164507167.	NM_021619.3(PRDM12):c.381G>A (p.Val127=) GRCh37: Chr9:133542152 GRCh38: Chr9:130666765	LOC126860775, PRDM12		Congenital insensitivity to pain-hypohidrosis syndrome	Likely benign (Mar 16, 2021)	criteria provided, single submitter
Select item 163380568.	NM_021619.3(PRDM12):c.856C>T (p.Leu286=) GRCh37: Chr9:133556808 GRCh38: Chr9:130681421	PRDM12		Congenital insensitivity to pain-hypohidrosis syndrome	Likely benign (Mar 7, 2021)	criteria provided, single submitter
Select item 162238269.	NM_021619.3(PRDM12):c.606C>T (p.Tyr202=) GRCh37: Chr9:133553951 GRCh38: Chr9:130678564	PRDM12		Congenital insensitivity to pain-hypohidrosis syndrome	Likely benign (Feb 5, 2022)	criteria provided, single submitter
Select item 161509370.	NM_021619.3(PRDM12):c.1084C>T (p.Leu362=) GRCh37: Chr9:133557036 GRCh38: Chr9:130681649	PRDM12		Congenital insensitivity to pain-hypohidrosis syndrome	Likely benign (Feb 24, 2022)	criteria provided, single submitter
Select item 160501971.	NM_021619.3(PRDM12):c.980G>C (p.Ser327Thr) GRCh37: Chr9:133556932 GRCh38: Chr9:130681545	PRDM12	S327T	Inborn genetic diseases, Congenital insensitivity to pain-hypohidrosis syndrome	Conflicting interpretations of pathogenicity (Sep 29, 2022)	criteria provided, conflicting interpretations
Select item 160392672.	NM_021619.3(PRDM12):c.1065C>G (p.Ala355=) GRCh37: Chr9:133557017 GRCh38: Chr9:130681630	PRDM12		Congenital insensitivity to pain-hypohidrosis syndrome	Likely benign (Mar 1, 2022)	criteria provided, single submitter
Select item 159757573.	NM_021619.3(PRDM12):c.882G>A (p.Thr294=) GRCh37: Chr9:133556834 GRCh38: Chr9:130681447	PRDM12		Congenital insensitivity to pain-hypohidrosis syndrome	Likely benign (Jul 18, 2022)	criteria provided, single submitter
Select item 158693874.	NM_021619.3(PRDM12):c.682+18G>A GRCh37: Chr9:133554045 GRCh38: Chr9:130678658	PRDM12		Congenital insensitivity to pain-hypohidrosis syndrome	Likely benign (Nov 2, 2021)	criteria provided, single submitter
Select item 158467675.	NM_021619.3(PRDM12):c.795C>T (p.His265=) GRCh37: Chr9:133556747 GRCh38: Chr9:130681360	PRDM12		Congenital insensitivity to pain-hypohidrosis syndrome	Likely benign (Jul 22, 2022)	criteria provided, single submitter
Select item 158138876.	NM_021619.3(PRDM12):c.231G>A (p.Gln77=) GRCh37: Chr9:133542002 GRCh38: Chr9:130666615	LOC126860775, PRDM12		Congenital insensitivity to pain-hypohidrosis syndrome	Likely benign (Apr 15, 2021)	criteria provided, single submitter
Select item 157585377.	NM_021619.3(PRDM12):c.414+8C>T GRCh37: Chr9:133542193 GRCh38: Chr9:130666806	LOC126860775, PRDM12		Congenital insensitivity to pain-hypohidrosis syndrome	Likely benign (Aug 27, 2022)	criteria provided, single submitter
Select item 157261378.	NM_021619.3(PRDM12):c.993G>A (p.Gln331=) GRCh37: Chr9:133556945 GRCh38: Chr9:130681558	PRDM12		Congenital insensitivity to pain-hypohidrosis syndrome	Likely benign (Oct 15, 2021)	criteria provided, single submitter
Select item 157082079.	NM_021619.3(PRDM12):c.414+29_414+47del GRCh37: Chr9:133542205-133542223 GRCh38: Chr9:130666818-130666836	LOC126860775, PRDM12		Congenital insensitivity to pain-hypohidrosis syndrome	Likely benign (Aug 23, 2022)	criteria provided, single submitter
Select item 156813780.	NM_021619.3(PRDM12):c.683-18G>T GRCh37: Chr9:133556617 GRCh38: Chr9:130681230	PRDM12		Congenital insensitivity to pain-hypohidrosis syndrome	Likely benign (Oct 25, 2022)	criteria provided, single submitter
Select item 156258881.	NM_021619.3(PRDM12):c.69G>C (p.Ala23=) GRCh37: Chr9:133540109 GRCh38: Chr9:130664722	PRDM12		Congenital insensitivity to pain-hypohidrosis syndrome	Likely benign (Mar 22, 2022)	criteria provided, single submitter
Select item 155899882.	NM_021619.3(PRDM12):c.683-9C>T GRCh37: Chr9:133556626 GRCh38: Chr9:130681239	PRDM12		Congenital insensitivity to pain-hypohidrosis syndrome	Likely benign (Jan 15, 2021)	criteria provided, single submitter
Select item 152391683.	NM_021619.3(PRDM12):c.655G>A (p.Glu219Lys) GRCh37: Chr9:133554000 GRCh38: Chr9:130678613	PRDM12	E219K	Congenital insensitivity to pain-hypohidrosis syndrome	Uncertain significance (Dec 11, 2021)	criteria provided, single submitter
Select item 150806584.	NM_021619.3(PRDM12):c.1012C>T (p.Pro338Ser) GRCh37: Chr9:133556964 GRCh38: Chr9:130681577	PRDM12	P338S	Congenital insensitivity to pain-hypohidrosis syndrome	Uncertain significance (Sep 21, 2021)	criteria provided, single submitter
Select item 149889285.	NM_021619.3(PRDM12):c.993_1013dup (p.His333_Ala339dup) GRCh37: Chr9:133556944-133556945 GRCh38: Chr9:130681557-130681558	PRDM12		Congenital insensitivity to pain-hypohidrosis syndrome	Uncertain significance (Aug 4, 2021)	criteria provided, single submitter
Select item 149507486.	NM_021619.3(PRDM12):c.1095G>A (p.Met365Ile) GRCh37: Chr9:133557047 GRCh38: Chr9:130681660	PRDM12	M365I	Congenital insensitivity to pain-hypohidrosis syndrome	Uncertain significance (Aug 2, 2021)	criteria provided, single submitter
Select item 148635287.	NM_021619.3(PRDM12):c.522C>A (p.Asn174Lys) GRCh37: Chr9:133543652 GRCh38: Chr9:130668265	PRDM12	N174K	Congenital insensitivity to pain-hypohidrosis syndrome	Uncertain significance (Nov 8, 2021)	criteria provided, single submitter
Select item 147911088.	NM_021619.3(PRDM12):c.127A>G (p.Asn43Asp) GRCh37: Chr9:133540167 GRCh38: Chr9:130664780	PRDM12	N43D	Congenital insensitivity to pain-hypohidrosis syndrome, Inborn genetic diseases	Uncertain significance (Mar 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 147784189.	NM_021619.3(PRDM12):c.401A>G (p.Asn134Ser) GRCh37: Chr9:133542172 GRCh38: Chr9:130666785	LOC126860775, PRDM12	N134S	Congenital insensitivity to pain-hypohidrosis syndrome	Uncertain significance (Jul 26, 2022)	criteria provided, single submitter
Select item 147433990.	NM_021619.3(PRDM12):c.20C>T (p.Pro7Leu) GRCh37: Chr9:133540060 GRCh38: Chr9:130664673	PRDM12	P7L	Congenital insensitivity to pain-hypohidrosis syndrome	Uncertain significance (Sep 20, 2021)	criteria provided, single submitter
Select item 146850891.	NM_021619.3(PRDM12):c.406A>G (p.Met136Val) GRCh37: Chr9:133542177 GRCh38: Chr9:130666790	LOC126860775, PRDM12	M136V	Congenital insensitivity to pain-hypohidrosis syndrome	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 146824892.	NM_021619.3(PRDM12):c.566T>C (p.Ile189Thr) GRCh37: Chr9:133543696 GRCh38: Chr9:130668309	PRDM12	I189T	Congenital insensitivity to pain-hypohidrosis syndrome	Uncertain significance (Aug 7, 2022)	criteria provided, single submitter
Select item 146298893.	NM_021619.3(PRDM12):c.1076_1077insCTC (p.Ala359_His360insSer) GRCh37: Chr9:133557027-133557028 GRCh38: Chr9:130681640-130681641	PRDM12		Congenital insensitivity to pain-hypohidrosis syndrome	Uncertain significance (Jul 15, 2022)	criteria provided, single submitter
Select item 145103694.	NC_000009.11:g.(?_133553896)_(133557056_?)del GRCh37: Chr9:133553896-133557056	PRDM12		Congenital insensitivity to pain-hypohidrosis syndrome	Uncertain significance (Oct 13, 2022)	criteria provided, single submitter
Select item 145042795.	NC_000009.11:g.(?_133553896)_(133557056_?)dup GRCh37: Chr9:133553896-133557056	PRDM12		Congenital insensitivity to pain-hypohidrosis syndrome	Uncertain significance (Oct 8, 2021)	criteria provided, single submitter
Select item 144955496.	NM_021619.3(PRDM12):c.1033C>G (p.Pro345Ala) GRCh37: Chr9:133556985 GRCh38: Chr9:130681598	PRDM12	P345A	Congenital insensitivity to pain-hypohidrosis syndrome	Uncertain significance (Aug 19, 2021)	criteria provided, single submitter
Select item 144955297.	NC_000009.11:g.(?_133540041)_(133543720_?)dup GRCh37: Chr9:133540041-133543720	PRDM12		Congenital insensitivity to pain-hypohidrosis syndrome	Uncertain significance (May 31, 2021)	criteria provided, single submitter
Select item 144728098.	NM_021619.3(PRDM12):c.301G>A (p.Gly101Ser) GRCh37: Chr9:133542072 GRCh38: Chr9:130666685	LOC126860775, PRDM12	G101S	Congenital insensitivity to pain-hypohidrosis syndrome	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 144540999.	NM_021619.3(PRDM12):c.538A>G (p.Ile180Val) GRCh37: Chr9:133543668 GRCh38: Chr9:130668281	PRDM12	I180V	Congenital insensitivity to pain-hypohidrosis syndrome, Inborn genetic diseases	Uncertain significance (Aug 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 1444938100.	NM_021619.3(PRDM12):c.1038_1040del (p.Leu347del) GRCh37: Chr9:133556990-133556992 GRCh38: Chr9:130681603-130681605	PRDM12	L347del	Congenital insensitivity to pain-hypohidrosis syndrome	Uncertain significance (Sep 30, 2021)	criteria provided, single submitter

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